77: Hypermelanoses Flashcards
What are the clinical features of congenital linear and whorled nevoid hypermelanosis?
Widespread streaky hyperpigmented macules along Blaschko lines; typically located on trunk and extremities; does not cross the midline; spares the face, palms, soles, eyes, and mucous membranes; may fade with advancing age.
What are the four clinical phases of Incontinentia Pigmenti?
- Vesicular stage (from birth or shortly thereafter); 2. Verrucous stage (between week 2 and 8); 3. Hyperpigmented stage (several months of age into adulthood); 4. Hypopigmented stage (from infancy onwards).
What is the etiology of Incontinentia Pigmenti?
X-linked dominant disorder; caused by mutation in the IKBKG gene (previously NEMO); lethal in male embryos; in females, inactivation of one of the two X chromosomes occurs during embryogenesis.
What are the extraneous manifestations associated with congenital linear and whorled nevoid hypermelanosis?
Developmental and growth retardation; facial and body asymmetry; ventricular septal defects; pseudohermaphroditism.
What histopathological findings are associated with congenital linear and whorled nevoid hypermelanosis?
Increased pigmentation of the basal layer; prominence or vacuolization of melanocytes; pigment incontinence is usually absent.
What is the typical clinical course and prognosis for congenital linear and whorled nevoid hypermelanosis?
Typical onset is within the first few weeks of life; hyperpigmentation may fade gradually with advancing age.
What are the common ocular and CNS manifestations in patients with Incontinentia Pigmenti?
Ocular manifestations occur in 30-70% of patients; CNS manifestations occur in 40% of patients.
What is the significance of the IKBKG gene in the pathogenesis of Incontinentia Pigmenti?
The IKBKG gene encodes a regulatory component of the IKappaB kinase complex, which is essential for activating the NF-kB pathway, protecting against apoptosis.
What are the differential diagnoses for congenital linear and whorled nevoid hypermelanosis?
Incontinentia pigmenti; epidermal nevus.
What management strategies are recommended for Incontinentia Pigmenti?
Topical steroids and topical tacrolimus in the vesicular stage; noncultured epidermal cell grafting for hypopigmented and atrophic scarring.
A newborn presents with widespread streaky hyperpigmented macules along the lines of Blaschko. What is the most likely diagnosis, and what are the associated extracutaneous manifestations?
The most likely diagnosis is Linear and Whorled Nevoid Hypermelanosis. Associated extracutaneous manifestations include developmental and growth retardation, facial and body asymmetry, ventricular septal defects, and pseudohermaphroditism.
A female infant develops vesicular lesions along the lines of Blaschko shortly after birth. Over time, these lesions progress to wart-like plaques and then hyperpigmented streaks. What is the diagnosis, and what gene mutation is responsible?
The diagnosis is Incontinentia Pigmenti (Bloch-Sulzberger Syndrome). It is caused by a mutation in the IKBKG gene (previously NEMO).
What are the key clinical features of Dyskeratosis Congenita (Zinsser-Cole-Engman syndrome)?
Reticulate skin pigmentation: especially on the neck and chest; nail atrophy: in fingernails and toenails; leukoplakia; extraneous manifestations: bone marrow failure (more than 80% of cases) and malignancy.
What is the etiology of Dyskeratosis Congenita?
Caused by mutations in components of the telomerase complex; X-linked DKC: mutations in DKC1 gene at Xq28 encoding dyskerin; autosomal dominant DKC: primarily caused by mutations in TERC; autosomal recessive form: involves mutations in telomerase-associated proteins such as NOP10, NHP2, and TINF2.
What are the clinical features of Naegeli-Franceschetti-Jadassohn syndrome?
Reticulate hyperpigmentation: most prominent in neck and axillae; palmoplantar diffuse keratoderma; absence of dermatoglyphs; nail and teeth changes; heat intolerance due to diminished or absent sweating.
What is the genetic basis of Naegeli-Franceschetti-Jadassohn syndrome?
Caused by mutations in the KRT14 gene, which encodes for keratin 14; mutations lead to fragility of basal keratinocytes and affect the development of dermatoglyphs and sweat glands.
How does Dermatopathia Pigmentosa Reticularis differ from Naegeli-Franceschetti-Jadassohn syndrome?
Dermatopathia pigmentosa reticularis is characterized by lifelong persistence of skin hyperpigmentation, partial alopecia, and absence of dental anomalies, while Naegeli-Franceschetti-Jadassohn syndrome does not have these features.
What are the histological findings in Dyskeratosis Congenita?
Epidermal atrophy and chronic inflammatory cell infiltrate with numerous melanophages in the upper dermis are usually observed, but specific changes are not demonstrated.
What are the clinical features of Dermatopathia Pigmentosa Reticularis?
Reticulate hyperpigmentation on the trunk; palmoplantar keratoderma with punctiform accentuation; nail and ocular changes; noncicatricial alopecia; ichthyosis; hypohidrosis; widespread hyperkeratotic lesions; ainhum formation; mechanic blister formation; pigmentation of the oral mucosa.
What is the prognosis for patients with autosomal dominant Dyskeratosis Congenita?
Patients with autosomal dominant form have a better prognosis than those with other forms, possibly due to the presence of an unaffected allele with some preservation of telomerase activity.
What are the histological features of Naegeli-Franceschetti-Jadassohn syndrome?
Numerous melanophages in the upper dermis, next to a patchy epidermal hyperpigmentation; eccrine glands appear normal in number and structure.
What are the differential diagnoses for Dyskeratosis Congenita?
Fanconi syndrome: characterized by short stature, hypoplastic or aplastic thumbs, and reduced number of carpal bones, with patchy hyperpigmentation appearing earlier than in Dyskeratosis Congenita.
A patient presents with reticulate hyperpigmentation on the neck and chest, nail atrophy, and leukoplakia. What is the underlying genetic defect, and what are the associated risks?
The condition is Dyskeratosis Congenita, caused by mutations in components of the telomerase complex. Associated risks include bone marrow failure and malignancies.
A child presents with reticulate hyperpigmentation on the neck and axillae, absence of dermatoglyphs, and heat intolerance. What is the diagnosis, and what gene mutation is implicated?
The diagnosis is Naegeli-Franceschetti-Jadassohn Syndrome, caused by mutations in the KRT14 gene.
What are the key clinical features of Dowling-Degos Disease?
Numerous small symmetrical brown-gray macules; begins in the groin and axillae in the 3rd and 4th decade of life; spreads to intergluteal and inframammary folds, neck, trunk, and arms; comedo-like hyperkeratotic follicular papules on the neck and axilla; pitted perioral acneiform scars.
What is the etiology of Dowling-Degos Disease?
Caused by mutations in the KRT5 gene on chromosome 12q13.13; haploinsufficiency in keratin 5 leads to epithelial remodeling and melanosome mistargeting; keratin 5 and keratin 14 form a keratin intermediate filament, with excess keratin 14 contributing to the disease pathology.
How does the histology of Dowling-Degos Disease appear?
Characteristic filiform rete projections from both epidermis and follicular infundibulum; hyperpigmented tips without an increase in melanocytes.
What differentiates Galli-Galli Disease from Dowling-Degos Disease?
Galli-Galli Disease is regarded as the acantholytic variant of Dowling-Degos Disease; it shows additional histopathologic findings of acantholysis in suprabasal epidermal layers.
What are the clinical features of Kitamura Reticular Acropigmentation?
Characterized by angular and sharply demarcated reticulate, freckle-like hyperpigmented macules; begins on the dorsum of the hands during the 1st decade of life; subsequently spreads to the rest of the body; macules are slightly depressed, and palmar pits can be observed.
What is the genetic basis of Kitamura Reticular Acropigmentation?
Caused by mutations in the ADAM10 gene (15q21.3); this gene encodes for a zinc metalloprotease, a disintegrin, and a metalloprotease domain containing protein 10, involved in the shedding of skin substrates.
What are the differential diagnoses for Kitamura Reticular Acropigmentation?
Dowling-Degos Disease; acropigmentation of Dohi; dermatopathia pigmentosa reticularis.
What are the clinical features of Nevus of Ota?
Congenital circumscribed tan-brown hyperpigmentation with dermal melanocytosis; unilateral pigmentation in the area of the 1st and 2nd branches of the trigeminal nerve; 60% have scleral involvement, typically seen in Asian females.
What is the epidemiology of Nevus of Ota?
Most commonly seen in Asians (0.6% affected); can be noted for the first time in early childhood or puberty; onset is usually noted at birth and more frequently in females.
What are the potential complications associated with Nevus of Ota?
Malignant melanoma may rarely develop, necessitating careful follow-up; association with ipsilateral glaucoma and intracranial melanocytosis has been described.
What histological findings are characteristic of Nevus of Ota?
Histopathology shows evenly spread melanocytes throughout the entire dermis.
What are the clinical features of Haber Syndrome?
Reticulate pigmentation on trunk and axillae; verruciformis papular lesions of the trunk; distinct photosensitive rosacea-like facial erythema and telangiectasias, most commonly presenting in childhood.
What is the significance of the KRT5 gene in Dowling-Degos Disease?
Mutations in the KRT5 gene lead to haploinsufficiency, causing epithelial remodeling and melanosome mistargeting, which are critical in the pathogenesis of Dowling-Degos Disease.
How does the clinical course of Dowling-Degos Disease progress?
The progression is slow and usually visible from early adult life, without sexual predilection.
What are the common sites of pigmentation in Nevus of Ota?
Typically seen in areas innervated by the 1st and 2nd branches of the trigeminal nerve, including the conjunctiva and tympanic membrane.
What are the histological features of Galli-Galli Disease?
Shows the diagnostic features of Dowling-Degos Disease with additional histopathologic finding of acantholysis in suprabasal epidermal layers.
What triggers have been associated with Kitamura Reticular Acropigmentation?
Various triggers include infection, trauma, UV exposure, and hormonal influences.
What is the typical age of onset for Kitamura Reticular Acropigmentation?
Typically begins during the 1st decade of life.
What is the clinical significance of the findings in Nevus of Ota?
The presence of unilateral pigmentation and potential for malignant transformation necessitates careful monitoring and follow-up.
What is the role of keratins in the pathogenesis of Dowling-Degos Disease?
Keratins regulate the availability and positioning of AP-3 complexes in keratinocytes, which is disrupted in Dowling-Degos Disease due to keratin 5 haploinsufficiency.
What are the common histological findings in Kitamura Reticular Acropigmentation?
Increased number of melanocytes and melanogenic activity, along with epidermal atrophy.
What is the typical presentation of Nevus of Ota in terms of pigmentation?
Unilateral blue-black or gray-brown dermal melanocytic pigmentation, typically in areas innervated by the trigeminal nerve.
What are the common differential diagnoses for Nevus of Ota?
Hori nevus, Nevus of Ito, Mongolian spots, dermal melanocyte hamartomas, and associated vascular malformations in phakomatosis pigmentovascularis.
What is the significance of the term ‘acantholytic variant’ in relation to Galli-Galli Disease?
It indicates that Galli-Galli Disease shares features with Dowling-Degos Disease but includes additional findings of acantholysis, which is a breakdown of connections between skin cells.
What is the typical demographic affected by Nevus of Ota?
Most commonly affects Asian females.
What is the clinical significance of the pigmentation patterns in Dowling-Degos Disease?
The reticulate hyperpigmentation in flexures can help in diagnosing the condition and differentiating it from other skin disorders.
What are the common features of the pigmentation seen in Galli-Galli Disease?
Similar to Dowling-Degos Disease but with the added feature of acantholysis in the epidermis.
What is the role of the ADAM10 gene in Kitamura Reticular Acropigmentation?
Mutations in the ADAM10 gene are responsible for the condition, affecting skin substrate shedding and leading to the characteristic pigmentation.
What is the significance of the term ‘reticulate hyperpigmentation’ in the context of these diseases?
It describes the pattern of pigmentation that is characteristic of conditions like Dowling-Degos Disease and Kitamura Reticular Acropigmentation, aiding in diagnosis.
A Japanese child develops angular, sharply demarcated reticulate hyperpigmented macules on the dorsa of the hands, which later spread to the body. What is the diagnosis, and what gene mutation is involved?
The diagnosis is Kitamura Reticular Acropigmentation, caused by mutations in the ADAM10 gene.
A patient presents with reticulate hyperpigmentation in the flexures, acneiform perioral pits, and
What can reticulate hyperpigmentation in flexures help diagnose?
It can help in diagnosing the condition and differentiating it from other skin disorders.
What is the diagnosis for a Japanese child with angular, sharply demarcated reticulate hyperpigmented macules on the dorsa of the hands?
The diagnosis is Kitamura Reticular Acropigmentation, caused by mutations in the ADAM10 gene.
What is the diagnosis for a patient with reticulate hyperpigmentation in the flexures, acneiform perioral pits, and hyperkeratotic papules?
The diagnosis is Dowling-Degos Disease, caused by mutations in the KRT5 gene.
What is the diagnosis for unilateral blue-black pigmentation in areas innervated by the first and second branches of the trigeminal nerve?
The diagnosis is Nevus of Ota. Associated risks include malignant melanoma and ipsilateral glaucoma.
What is the clinical course and prognosis of Klippel-Trenaunay syndrome?
Persistent and does NOT usually undergo spontaneous regression.
What is the treatment of choice for Klippel-Trenaunay syndrome?
Laser surgery, specifically quality-switched (QS) lasers including QS ruby laser, QS alexandrite laser, and QS Nd:YAG laser.
What are the clinical features of Nevus of Ito?
Congenital circumscribed brown-tan hyperpigmentation with dermal melanocytosis, similar to nevus of Ota, involving the acromioclavicular and deltoid region.
What is the epidemiology of Mongolian spots?
More common in African, Asian, and Hispanic populations; occurs in both sexes with slight male predominance.
What are the clinical features of Mongolian spots?
Well-circumscribed, blue-tinged hyperpigmented macules in the sacral area, can also be found in gluteal and lumbar regions.
What is the management for Mongolian spots?
Treatment can be avoided due to spontaneous resolution; laser treatment in childhood or adulthood can give favorable results, especially in sacral Mongolian spots.
What are the hallmark features of Peutz-Jeghers syndrome?
Mucocutaneous pigmentation resembling Carney complex and intestinal hamartomatous polyposis.
What is the genetic mutation associated with LEOPARD syndrome?
Caused by heterozygous missense mutation in the PTPN11 gene, which codes for protein tyrosine phosphatase SHP-2.
What are the clinical components of Carney complex?
Spotty skin pigmentation including lentigines, ephelides, blue nevi, junctional, dermal and compound nevi, and café-au-lait spots.
What is the clinical significance of familial lentiginous syndromes?
Characterized by well-circumscribed brown macules with increased number of melanocytes in the epidermis, leading to increased incidence of cardiovascular, endocrine, and GI neoplasias.
What is the diagnosis for a patient with congenital hyperpigmentation presenting with blue-tinged macules in a dermatomal pattern?
The diagnosis is Dermal Melanocyte Hamartoma.
What is the diagnosis for a patient with congenital circumscribed blue-tinged hyperpigmentation in the sacral region?
The diagnosis is Mongolian Spots. The condition typically regresses spontaneously during childhood.
What other clinical features are associated with Peutz-Jeghers Syndrome?
Other features include intestinal hamartomatous polyposis and a predisposition to GI and non-GI malignancies.
What gene mutation is responsible for LEOPARD syndrome in a patient with lentigines and pulmonary stenosis?
The condition is caused by a heterozygous missense mutation in the PTPN11 gene.
What are the key clinical features of Bannayan-Riley-Ruvalcaba Syndrome (BRRS)?
BRRS is characterized by a classical triad of: 1. Macrocephaly 2. Genital lentiginosis (sometimes presenting as larger CALMs) 3. Intestinal polyposis. Additionally, mucocutaneous manifestations may include vascular malformations, lipomatosis, multiple acrochordons, and verrucous facial papules.
What genetic mutation is commonly associated with Neurofibromatosis Type 1 (NF1)?
Neurofibromatosis Type 1 is associated with a mutation in the NF1 gene, which encodes the neurofibromin protein.
How do the café-au-lait macules (CALMs) in McCune-Albright Syndrome differ from those in Neurofibromatosis Type 1?
In McCune-Albright Syndrome, CALMs are fewer in number, have more irregular borders than those in NF1, and are classically demarcated at the midline.
What is the hallmark feature of Centrofacial Lentiginosis?
The hallmark feature is the presence of a horizontal band of lentigines across the central face.
What are the clinical characteristics of Bloom Syndrome?
Bloom Syndrome is characterized by: 1. Growth deficiency 2. Unusual facies 3. Café-au-lait macules (CALMs) 4. Sun sensitivity with telangiectasia and erythema 5. Increased risk of neoplasia.
What is the genetic basis of Legius Syndrome?
Legius Syndrome is caused by a mutation in the SPRED1 gene located on chromosome 15q13.2.
What are the common endocrine tumors associated with the conditions mentioned?
Common endocrine tumors include: 1. Pigmented nodular adrenal disease (Cushing syndrome) 2. Testicular large-cell calcifying Sertoli cell tumor (sexual precocity) 3. Pituitary adenoma (acromegaly) 4. Thyroid tumors 5. Ovarian cysts.
What is the significance of the PTEN gene in Bannayan-Riley-Ruvalcaba Syndrome?
More than 60% of patients show germline mutations in the PTEN gene located on chromosome 10q23.3.
What are the histological features of NF1-associated CALMs?
Histologically, NF1-associated CALMs contain a significantly increased number of melanocytes in the epidermis.
What are the clinical implications of mutations in the BLM gene associated with Bloom Syndrome?
Mutations in the BLM gene lead to a DNA repair defect resulting in genomic instability and an increased risk of developing various cancers.
What is the diagnosis for a patient with multiple café-au-lait macules, axillary freckling, and macrocephaly?
The diagnosis is Legius Syndrome, caused by mutations in the SPRED1 gene.
What gene mutation is implicated in Carney Complex?
The condition is associated with mutations in the PRKAR1A gene.
What gene mutation is responsible for Bannayan-Riley-Ruvalcaba Syndrome in a patient with macrocephaly and genital lentiginosis?
The condition is caused by mutations in the PTEN gene.
What is the underlying genetic defect in McCune-Albright Syndrome with café-au-lait macules and precocious puberty?
The condition is caused by a postzygotic activating mutation of the Gs protein α subunit.
What are the cardinal features of Silver-Russell Syndrome (SRS)?
The cardinal features include: 1. Low birth weight 2. Short stature 3. Small triangular face.
How does Addison disease lead to diffuse cutaneous hyperpigmentation?
Due to adrenal insufficiency resulting in inadequate secretion of corticosteroids and androgenic hormones, causing compensatory overproduction of ACTH.
What is the clinical significance of hyperpigmentation in Cushing syndrome?
It is caused by glucocorticoid excess, leading to generalized hyperpigmentation, especially in patients with ectopic ACTH syndrome.
What are the common causes of hyperthyroidism and their association with hyperpigmentation?
Common causes include Graves disease. Hyperpigmentation occurs in approximately 2-40% of cases.
What is the relationship between Nelson syndrome and hyperpigmentation?
Nelson syndrome is characterized by an enlarging pituitary tumor after bilateral adrenalectomy, associated with elevated fasting plasma ACTH levels and hyperpigmentation.
Describe the features of Acanthosis Nigricans.
Characterized by thickened hyperpigmented velvety skin, most commonly noted on the neck, axilla, and other folds.
What are the potential causes of hyperpigmentation in Pheochromocytoma?
Hyperpigmentation may occur due to excessive production of catecholamines and Addisonian-like hyperpigmentation.
What is the significance of CALMs in Watson syndrome?
Café-au-lait macules are significant as they are one of the key features of the syndrome.
How does Carcinoid syndrome contribute to hyperpigmentation?
It results from melanocyte-stimulating hormone-producing tumors, leading to diffuse hyperpigmentation.
What are the clinical features of Cushing syndrome related to hyperpigmentation?
Generalized hyperpigmentation with accentuation in areas of sun exposure and chronic mild trauma.
What is the diagnosis for a patient with a history of adrenal insufficiency presenting with diffuse hyperpigmentation?
The diagnosis is Addison Disease. The hyperpigmentation is due to ACTH binding to the melanocortin-1 receptor.
What is the likely cause of generalized hyperpigmentation in a patient with Cushing syndrome?
The hyperpigmentation is caused by ectopic ACTH syndrome.
What is the diagnosis for a patient with thickened, hyperpigmented, velvety skin on the neck and axillae?
The diagnosis is Acanthosis Nigricans. Conditions to consider include diabetes, obesity, and malignancies.
What is the underlying genetic defect in Bloom Syndrome with sun sensitivity and telangiectasia?
The condition is caused by a DNA repair defect involving the BLM gene.
What genetic abnormalities are associated with Silver-Russell Syndrome?
Associated abnormalities include maternal uniparental disomy for chromosome 7 and methylation defects in the H19 imprinted domain.
What is the clinical presentation of maturational dyschromia in the African and Indian population?
It presents as dark-brown to black poorly demarcated areas of hyperpigmentation on the lateral forehead, temples, and zygoma.
What are the cutaneous manifestations of Kwashiorkor?
They begin with hypopigmentation of the face, presenting a ‘flaky paint’ appearance with hyperkeratoses and scaling.
How does vitamin B12 deficiency manifest in the skin?
It manifests as generalized hyperpigmentation of the skin, along with hypopigmentation or early graying of the hair.
What is the clinical triad associated with Pellagra?
The clinical triad includes dermatitis, dementia, and diarrhea.
What are the two mechanisms of hyperpigmentation observed in Hemochromatosis?
Hyperpigmentation occurs due to hemosiderin deposition causing a diffuse, slate-gray color.
What is hypopigmentation or early graying of the hair associated with?
Hypopigmentation or early graying of the hair is associated with increased melanin in the basal layer of the skin.
What is the clinical triad associated with Pellagra?
The clinical triad associated with Pellagra includes dermatitis, dementia, and diarrhea.
What are the two mechanisms of hyperpigmentation observed in Hemochromatosis?
In Hemochromatosis, hyperpigmentation occurs due to hemosiderin deposition causing a diffuse, slate-gray color, and increased epidermal melanin production.
What is the significance of the ‘flag sign’ in Kwashiorkor?
The ‘flag sign’ in Kwashiorkor refers to hair that becomes hypopigmented with bands of hypopigmentation along the hair shafts.
What is the treatment for vitamin B12 deficiency-related hyperpigmentation?
The treatment for vitamin B12 deficiency-related hyperpigmentation is supplementation with vitamin B12.
What are the common causes of Pellagra?
Common causes of Pellagra include deficiency in niacin, chronic alcoholism, certain drugs, and malabsorption due to conditions like inflammatory bowel disease.
What is the relationship between Porphyria Cutanea Tarda and hyperpigmentation?
Porphyria Cutanea Tarda is associated with diffuse brown hyperpigmentation, particularly in photoexposed areas.
What is the histological finding in advanced metastatic melanoma associated with mast cell disorders?
Histological findings include melanin particles and melanin-containing histiocytes and dendritic cells in the dermis and subcutaneous fat.
What is the mainstay treatment for Hemochromatosis?
The mainstay treatment for Hemochromatosis is phlebotomy.
What are the skin changes associated with Folic Acid Deficiency?
Folic Acid Deficiency is associated with megaloblastic anemia and hyperpigmentation of the skin.
What is the role of hepcidin in Hemochromatosis?
In Hemochromatosis, lowered levels of hepcidin lead to increased intestinal absorption and deposition of iron.
What are the potential causes of hyperpigmentation in the context of chronic alcoholism?
Chronic alcoholism can lead to hyperpigmentation due to malabsorption of nutrients, particularly niacin.
What is the significance of the ‘3Ds’ in Pellagra?
The ‘3Ds’ in Pellagra refer to the clinical triad of dermatitis, dementia, and diarrhea.
How does the skin histology differ in vitamin B12 deficiency compared to other conditions?
In vitamin B12 deficiency, skin histology shows increased melanin in the basal layer.
What is the typical appearance of skin in patients with Hemochromatosis?
Patients with Hemochromatosis typically exhibit a slate-gray discoloration of the skin.
What are the cutaneous manifestations of Folic Acid Deficiency?
Folic Acid Deficiency has been reported to cause hyperpigmentation of the skin.
What is the treatment for Pellagra?
The treatment for Pellagra involves niacin supplementation.
What is the relationship between chronic diseases and hyperpigmentation?
Chronic diseases can lead to malabsorption of nutrients, resulting in conditions like Pellagra.
What is the clinical significance of the ‘flaky paint’ appearance in Kwashiorkor?
The ‘flaky paint’ appearance in Kwashiorkor indicates severe protein malnutrition.
What is the role of niacin in preventing Pellagra?
Niacin is essential for preventing Pellagra.
What are the implications of hyperpigmentation in patients with diabetes mellitus associated with Hemochromatosis?
In patients with diabetes mellitus associated with Hemochromatosis, hyperpigmentation may present as ‘bronze diabetes.’
What is the significance of melanosomes in the blood in relation to mast cell disorders and melanoma?
The presence of melanosomes circulating in the blood supports the hypothesis that diffuse melanosis may result from tumor lysis.
What are the common skin changes observed in patients with Porphyria Cutanea Tarda?
Patients with Porphyria Cutanea Tarda commonly exhibit diffuse brown hyperpigmentation.
What is the impact of trauma on skin pigmentation?
Trauma may cause localized hyperpigmentation in areas of chronic friction.
What is the diagnosis and treatment for a child in a developing country with hyperpigmented skin lesions and hypopigmented hair?
The diagnosis is Kwashiorkor. Treatment involves replacing protein sources.
What is the diagnosis and treatment for a patient with chronic alcoholism presenting with hyperpigmented skin lesions, diarrhea, and dementia?
The diagnosis is Pellagra. Treatment involves niacin supplementation.
What is the likely diagnosis for a patient with diffuse brown hyperpigmentation accentuated in photoexposed areas?
The likely diagnosis is Porphyria Cutanea Tarda.
What are the two mechanisms responsible for generalized slate-gray hyperpigmentation in a patient with hemochromatosis?
The pigmentation is due to hemosiderin deposition and increased epidermal melanin production.
What is the underlying mechanism for diffuse slate bluish-gray discoloration of the skin in a patient with metastatic melanoma?
The discoloration is due to melanosomes circulating in the blood.
What are the major effects of ultraviolet radiation on normal human skin?
The major acute effect of ultraviolet radiation on normal human skin is tanning.
What characterizes cutaneous radiation syndrome?
Cutaneous radiation syndrome is characterized by fibrosis, keratosis, telangiectasias, and sharply demarcated lentiginous hyperpigmentation.
What histological changes are observed in cutaneous radiation syndrome?
Histological changes include altered melanin content in melanocytes and basal keratinocytes.
What is the clinical significance of thermal burn injuries in relation to hyperpigmentation?
Superficial thermal burn injuries can lead to various degrees of hyperpigmentation.
What causes frictional melanosis and what are its histological features?
Frictional melanosis is caused by repeated rubbing of the skin, showing a marked increase in melanin.
What are the common causes of acquired, diffuse, nonpatterned hyperpigmentation?
Common causes include toxins and medications.
What are the clinical features associated with drug-induced hyperpigmentation?
Clinical features vary with sites, patterns, and shades associated with particular medications.
What types of pigmentation are associated with minocycline use?
Minocycline can cause three types of pigmentation: Type 1, Type 2, and Type 3.
What is the significance of fixed drug eruptions in hyperpigmentation?
Fixed drug eruptions may cause well-demarcated mucocutaneous hyperpigmented macules.
How does UV exposure influence the deposition of melanin in the dermis?
UV exposure can increase the accumulation of melanin in the dermis.
What histological changes are expected after electron-beam therapy?
Histological changes include altered melanin content in melanocytes.
What is the underlying mechanism for hypopigmentation with peripheral hyperpigmentation after cryotherapy?
The hypopigmentation and peripheral hyperpigmentation result from melanocyte injury.
What is the likely cause of sharply demarcated lentiginous hyperpigmentation resembling ultraviolet-induced lentigines?
The likely cause is ionizing radiation.
What is the diagnosis and expected histological findings for a patient with hyperpigmentation after repeated rubbing of the skin?
The diagnosis is Frictional Melanosis. Histological findings include marked increase in melanin.
What are the three types of pigmentation associated with prolonged use of minocycline?
Type 1: Blue-gray pigmentation in normal skin. Type 2: Pigmentation on lower legs. Type 3: Diffuse muddy brown pigmentation.
What is the major acute effect of ultraviolet radiation on human skin?
The major acute effect of ultraviolet radiation on human skin is tanning.
What is the significance of ceasing the offending drug in the management of hyperpigmentation?
Cessation of the offending drug is critical as hyperpigmentation can persist for decades.
What are the clinical features of exogenous onchronosis?
Exogenous onchronosis presents as asymptomatic blue-black and gray-black hyperpigmented macules.
How can dermoscopy assist in the diagnosis of onchronosis?
Dermoscopy can help distinguish onchronosis from melasma.
What is the gold standard for diagnosing onchronosis?
The gold standard for diagnosing onchronosis is a skin biopsy.
What are the management strategies for exogenous onchronosis?
Management strategies include stopping the offending drug and sun protection.
What are the common sites for hyperpigmentation in exogenous onchronosis?
Common sites include the face, neck, back, and extremities.
What are the clinical features of hyperpigmentation associated with chikungunya?
Clinical features include lentiginous central facial hyperpigmentation and diffuse hyperpigmentation of acrofacial lesions.
What is the role of lasers in the management of hyperpigmentation?
Lasers can yield favorable results in some cases of hyperpigmentation.
What is the relationship between UV exposure and hyperpigmentation?
UV exposure can exacerbate hyperpigmentation, particularly with medications.
What are the differential diagnoses for onchronosis?
The differential diagnosis for onchronosis includes melasma.
What is the likely cause of streaky hyperpigmentation in a patient with systemic sclerosis?
The streaky hyperpigmentation is a manifestation of systemic sclerosis.
What are the exacerbating factors for exogenous onchronosis in a patient with chronic hydroquinone use?
Exacerbating factors include UV exposure and prolonged application of the drug.
What is the diagnosis and underlying mechanism for well-demarcated mucocutaneous hyperpigmented macules after taking NSAIDs?
The diagnosis is Fixed Drug Eruption. The mechanism involves deposition of melanin in the dermis.
What is the diagnosis and histological findings for a patient with asymptomatic blue-black hyperpigmented macules after prolonged use of hydroquinone?
The diagnosis is Exogenous Onchronosis. Histological findings include yellowish-brown banana-shaped globules.
What is the likely cause of diffuse generalized hyperpigmentation resembling Addison disease in a patient with systemic sclerosis?
The hyperpigmentation is due to systemic sclerosis itself.
What are the systemic symptoms associated with mosquito-borne illnesses that can lead to hypermelanosis?
Systemic symptoms include fever, arthralgia, myalgia, and gastrointestinal upset.
What is the primary vector for the transmission of diseases that may cause cutaneous hyperpigmentation?
The primary vector is Aedes aegypti.
What histological findings are associated with conditions leading to hypermelanosis?
Histological findings include lymphocytic vasculopathy and increased intraepidermal melanin.
What is the clinical course and prognosis for pigmentation resulting from mosquito-borne illnesses?
Pigmentation often persists for many months following the infection.
What is the mainstay of management for symptomatic relief in cases of hypermelanosis?
Symptomatic relief is the mainstay of management for hypermelanosis.
What are the characteristics of the secondary stage of pinta in relation to hypermelanosis?
The secondary stage of pinta presents with erythematous scaly papules.
What is the clinical presentation of chronic popular onchocerciasis related to hypermelanosis?
Chronic popular onchocerciasis presents as a severely pruritic maculopapular rash.
What theories exist regarding the mechanism of cutaneous hyperpigmentation triggered by viral infections?
Theories include melanocyte phagocytosis of the invading pathogen.
What is the clinical presentation of chronic popular onchocerciasis related to hypermelanosis?
Chronic popular onchocerciasis presents as a severely pruritic maculopapular rash with hyperpigmented macules, most often found on the shoulders, buttocks, and extremities.
What theories exist regarding the mechanism of cutaneous hyperpigmentation triggered by viral infections?
Theories include melanocyte phagocytosis of the invading pathogen followed by intraepidermal melanin dispersion or retention triggered by the virus.
What differential diagnoses should be considered for dermal melanocytosis?
Differential diagnoses include other viral illnesses and mosquito-borne illnesses.
What is the significance of melanophages in the context of hypermelanosis?
Melanophages may account for the persistent cutaneous pigmentation observed in hypermelanosis.
A patient develops lentiginous central facial hyperpigmentation and flagellate hyperpigmentation after a mosquito-borne viral illness. What is the diagnosis?
The diagnosis is Chikungunya-associated hyperpigmentation.
A patient presents with erythematous scaly papules that turn brown or slate-blue over time. What is the diagnosis, and what is the causative organism?
The diagnosis is Pinta, caused by Treponema carateum.
A patient presents with a severely pruritic maculopapular rash with hyperpigmented macules on the shoulders and buttocks. What is the diagnosis, and what is the causative organism?
The diagnosis is Onchocerciasis, caused by Onchocerca volvulus.
What are some topical treatments reported to cause hyperpigmentation?
Some topical treatments that can cause hyperpigmentation include:
- Aminolevulinic acid
- Hydroquinone
- Tretinoin
- Bimatoprost
- Carotenoid
- Chlorhexidine
- Latanoprost
- Minoxidil
- Spironolactone
- Timolol
Which antifectious drugs are associated with hyperpigmentation?
Antifectious drugs reported to cause hyperpigmentation include:
- Amphotericin B
- Ceftriaxone
- Chloroquine
- Clindamycin
- Dapsone
- Demecolcine
- Entecavir
- Ganciclovir
- Griseofulvin
- Hydroxychloroquine
- Ketoconazole
- Linezolid
- Minocycline
- Oxacillin
- Quinine
- Ribavirin
- Terbinafine
- Voriconazole
- Zidovudine
What CNS drugs are known to cause hyperpigmentation?
CNS drugs that have been reported to cause hyperpigmentation include:
- Amitriptyline
- Carbamazepine
- Clonazepam
- Diazepam
- Fluphenazine
- Haloperidol
- Imipramine
- Olanzapine
- Paroxetine
- Phenothiazine
- Risperidone
- Thioridazine
- Zaleplon
List some antineoplastic agents that can lead to hyperpigmentation.
Antineoplastic agents associated with hyperpigmentation include:
- Bleomycin
- Busulfan
- Capecitabine
- Carboplatin
- Cisplatin
- Cyclophosphamide
- Dactinomycin
- Daunorubicin
- Doxorubicin
- Etoposide
- Irinotecan
- Vinblastine
- Vincristine
What miscellaneous medications are reported to cause hyperpigmentation?
Miscellaneous medications that can lead to hyperpigmentation include:
- Alitretinoin
- Amiodarone
- Azathioprine
- Cetirizine
- Cyclosporine
- Deflazacort
- Diethylstilbestrol
- Insulin
- Levobupivacaine
- Nicotine
- Propylthiouracil
- Riboflavin
- Sulfasalazine
- Tetracycline
- Vitamin A
What are Pigmentary Demarcation Lines (PDL)?
Pigmentary Demarcation Lines (PDL), also known as Voigt or Futcher lines, are abrupt changes from lighter to darker skin in a linear pattern, commonly seen on limbs, trunk, and face, especially in persons with skin of color.
When do Pigmentary Demarcation Lines typically appear?
They often appear in childhood or puberty and persist throughout life.
What are the clinical features of Type A PDL?
Involves upper anterior arms.
What are the clinical features of Type B PDL?
Posterior medial lower limb.
What are the clinical features of Type C PDL?
Vertical hypopigmented line in sternal and parasternal areas.
What are the clinical features of Type D PDL?
Vertical line in spinal or paraspinal area.
What are the clinical features of Type E PDL?
Hypopigmented areas or bands on bilateral aspects of the chest.
What are the clinical features of Type G PDL?
W-shaped hyperpigmented line between the malar prominence and the temple.
What are the clinical features of Type H PDL?
Linear hyperpigmentation from the mouth to the chin.
What is Acquired Idiopathic Facial Pigmentation?
A condition described in the Indian population, considered another group of PDLs.
When does Acquired Idiopathic Facial Pigmentation typically onset?
Typically has an onset in early adulthood and persists throughout life.
What are the clinical features of Acquired Idiopathic Facial Pigmentation?
Well-demarcated dark brown-gray macular hyperpigmentation on periorbital, zygomatic, malar areas, and the root of the nose.
What is the etiology of Acquired Idiopathic Facial Pigmentation?
Etiology is unknown, but genetic disorders and UV light exposure are postulated.
How is Acquired Idiopathic Facial Pigmentation diagnosed?
Diagnosis is usually clinical, and it darkens over time.
What are the characteristics of Periorbital Pigmentation?
Periorbital Pigmentation, also known as dark circles, is very common in certain racial ethnic types, mainly those with darker skin.
When does Periorbital Pigmentation typically onset?
Onset typically occurs in young adults.
What is the typical presentation of Periorbital Pigmentation?
Asymptomatic brown-black nonscaly pigmentation noted on the eyelids, with accentuation of skin creases and visible vessels.
How is Periorbital Pigmentation diagnosed?
Diagnosis is usually clinical, with histology showing increased melanin in the basal epidermis.
What is Mucosal Melanosis?
Mucosal Melanosis refers to physiologic pigmentation in the oral cavity, affecting areas such as the gingiva, oral mucosa, lips, and hard palate.
Who is more commonly affected by Mucosal Melanosis?
More common in individuals with skin of color.
What is the typical onset of Mucosal Melanosis?
Gradual onset, often in middle-aged adults with richly pigmented skin.
What are the clinical features of Mucosal Melanosis?
Diffuse and bilateral pigmentation may occur, but localized macular hyperpigmentation can also be noted.
What is the diagnosis for Mucosal Melanosis?
Diagnosis is usually clinical.
What is Longitudinal Melanonychia?
Longitudinal Melanonychia is characterized by benign brown-black linear bands of pigmentation on multiple nails.
Who is more commonly affected by Longitudinal Melanonychia?
More common in individuals with skin of color.
What should prompt evaluation for melanoma in Longitudinal Melanonychia?
A single band on the thumb or great toe should prompt evaluation for melanoma.
What are Acral Hyperpigmented Macules?
Acral Hyperpigmented Macules are benign brown well-demarcated macules found on palms and soles.
Who is more commonly affected by Acral Hyperpigmented Macules?
More common in individuals with skin of color.
What is Phytophotodermatitis?
Phytophotodermatitis is a skin condition resulting from contact with plants containing phototoxic agents, such as psoralens, followed by UV exposure.
What is the association of Phytophotodermatitis with hyperpigmentation?
It leads to patterned hyperpigmentation following the initial dermatitis.
What is Flagellate Mushroom Dermatitis?
Flagellate Mushroom Dermatitis is associated with the oral ingestion of raw or insufficiently cooked shiitake mushrooms.
What is the clinical presentation of Flagellate Mushroom Dermatitis?
Appears 12 hours to 5 days after consumption, characterized by linear, grouped, erythematous, and intensely pruritic papules.
What are the clinical features of Pigmentary Demarcation Lines (PDL) by type?
Type | Description |
|——|————-|
| A | Most common; involves upper anterior arms (extends across pectorial area) |
| B | Posterior medial lower limb |
| C | Vertical hypopigmented line in sternal and parasternal areas |
| D | Vertical line in spinal or paraspinal area |
| E | Hypopigmented oval areas, streaks or bands on bilateral aspects of chest |
| G | W-shaped hyperpigmented line between the malar prominence and the temple |
| H | Linear hyperpigmentation from angle of the mouth to the lateral aspect of the chin |
| I | Pigmentary demarcation line anterior to the ear (not yet described in literature) |
What is the management approach for Acquired Idiopathic Facial Pigmentation?
- Sun protection is essential to prevent further darkening.
- Topical hydroquinone can be used to subtly lighten excessive pigmentation.
- Reassurance to the patient regarding the benign nature of the condition is important.
How does Periorbital Pigmentation present?
- Presentation: Asymptomatic brown-black nonscaly and nonerythematous pigmentation on the upper, lower, or both eyelids, often accentuated by skin creases and visible vessels.
What is the management for Periorbital Pigmentation?
- Management: Treatment of underlying dermatosis if present; topical therapies, peels, lasers, and autologous fat transplant may be useful.
What are the histological findings associated with Mucosal Melanosis?
-
Histology shows:
- Basal cell hypermelanosis
- Increased dermal melanophages
- Pigment incontinence
- Normal melanocytes may be increased in number in some instances.
What clinical features should prompt a clinician to investigate Longitudinal Melanonychia for possible melanoma?
A single brown-black linear band located on the thumb or great toe should prompt further investigation for signs of melanoma both clinically and dermoscopically.
What is the etiology and management of Flagellate Mushroom Dermatitis?
- Etiology: Associated with oral ingestion of raw or insufficiently cooked shiitake mushrooms, leading to a toxic reaction from a thermo-labile polysaccharide contained within the mushroom.
- Management: Symptomatic treatment for the pruritic papules and pustular eruptions; reassurance regarding the self-limiting nature of the condition.
What is the likely diagnosis for abrupt changes from lighter to darker skin in a linear pattern?
The likely diagnosis is Pigmentary Demarcation Lines (PDL). Management includes reassurance and sun protection to diminish the difference between affected and unaffected skin.
What is the condition for well-demarcated dark brown-gray macular hyperpigmentation in a young adult from India?
The condition is Acquired Idiopathic Facial Pigmentation. Management includes sun protection and topical hydroquinone to subtly lighten excessive pigmentation.
What is the diagnosis for diffuse bilateral pigmentation in the oral cavity of a middle-aged adult?
The diagnosis is Mucosal Melanosis. No treatment is required; reassurance is sufficient.
What should a clinician do for a patient with a single brown-black linear band of pigmentation on their thumb?
The clinician should diligently look for signs of melanoma clinically and dermoscopically.
What is the diagnosis for patterned hyperpigmentation after contact with a plant followed by UV exposure?
The diagnosis is Phytophotodermatitis, caused by contact with plants containing phototoxic agents such as psoralens.
What is Erythema ab Igne and what causes it?
Erythema ab Igne is caused by frequent exposure to heat, usually infrared radiation, leading to reticulate hyperpigmentation.
What are the common sites and symptoms of Prurigo Pigmentosa?
Prurigo Pigmentosa is characterized by acquired diffuse pigmentation on the trunk, particularly the upper back, chest, neck, and lumbosacral region.
What is the typical presentation of Nevus of Hori?
Nevus of Hori presents as bluish-brown to slate-gray hyperpigmented macules ranging from pinhead size to a few mm in diameter, commonly found on the face.
What are the histological features of Nevus of Becker?
Histologically, Nevus of Becker shows epidermal acanthosis with variable hyperkeratosis and elongation of the rete ridges.
What are Café-au-lait macules?
Café-au-lait macules are acquired circumscribed hyperpigmentation that can exist in isolation or as part of a genodermatosis.
What are the common sites and characteristics of Erythema ab Igne?
Common sites include the thighs, lower legs, abdomen, and back. It presents as tan-red-brown reticulate transient and blanchable erythema.
What is the typical presentation and management of Prurigo Pigmentosa?
Prurigo Pigmentosa typically presents as intensely pruritic symmetrical urticarial papules, vesicles, and papulovesicles, followed by asymptomatic reticulated hyperpigmentation.
Describe the characteristics and management options for Nevus of Becker.
Nevus of Becker is characterized by hyperpigmented macular or speckled areas, commonly found on the trunk and associated with hypertrichosis.
What are the clinical implications of Café-au-lait macules?
Café-au-lait macules are acquired circumscribed hyperpigmentation that can exist in isolation or as part of a genodermatosis.
What is the diagnosis for tan-red-brown reticulate hyperpigmentation after prolonged use of a heating pad?
The diagnosis is Erythema Ab Igne. Management includes eliminating the heat source.
What is the condition for intensely pruritic erythematous papules on the upper back that heal to reticulated hyperpigmentation?
The condition is Prurigo Pigmentosa. Management includes minocycline or doxycycline.
What is the diagnosis for bilateral bluish-gray hyperpigmented macules on the malar region?
The diagnosis is Nevus of Hori. Treatment options include Q-switched lasers.
What is the diagnosis for a hyperpigmented macular area on the scapular region associated with coarse dark hairs?
The diagnosis is Nevus of Becker. Management options include surgical excision for small lesions.
What should be investigated if a patient presents with six or more light-brown macules?
The presence of six or more café-au-lait macules warrants investigation for underlying genodermatoses.
What is the diagnosis for reticulate hyperpigmentation on lower legs after prolonged laptop use?
The diagnosis is Erythema Ab Igne.
What is the diagnosis for bluish-gray macules on the malar region with biopsy revealing melanocytosis?
The diagnosis is Nevus of Hori.
What is the diagnosis for hyperpigmented macules on the trunk that darken during pregnancy?
The diagnosis is Nevus of Becker.
What is the histopathology of ephelides (freckles)?
Histopathology shows a normal to reduced number of sometimes hypertrophic melanocytes and increased melanin in the basal epidermal layer.
What are the management options for ephelides?
Management includes photoprotection, topical depigmenting agents such as hydroquinone, retinoids, alpha hydroxy acids, and botanicals.
What are the histological features of ephelides (freckles)?
Histological features include epidermal acanthosis, increased melanin in the basal epidermal layer, and increased arrector pili muscles in the dermis.
What are the management options for ephelides?
Management includes photoprotection, topical depigmenting agents such as hydroquinone, retinoids, alpha hydroxy acids, and botanicals; cryotherapy; and IPL or Q-switched lasers (preferred). Relapse should be expected.
What is the histology of postinflammatory hyperpigmentation (PIH)?
Histology shows pigment incontinence with accumulation of melanophages and increased melanin in epidermal layers.
What are the management strategies for postinflammatory hyperpigmentation?
Management strategies include: 1. Treating the primary dermatosis early to prevent PIH. 2. Photoprotection. 3. Hydroquinone or alternatives, topical corticosteroids. 4. Nonprescription cosmeceuticals containing licorice, soy, niacinamide. 5. Prescribed topicals: kojic acid, retinoids, alpha-hydroxy acids. 6. Kligman’s formula. 7. Physical therapies: peels and lasers (with caution). 8. Gold standard: topical hydroquinone.
What is melasma and its common characteristics?
Melasma, also known as chloasma or mask of pregnancy, is a common disorder of pigmentation affecting mainly premenopausal women, but also men and postmenopausal women. It presents as acquired diffuse light-brown to dark-brown poorly circumscribed macules on the central face, particularly affecting the malar and mandibular skin, nose, forehead, chin, and upper lip.
What are the management options for melasma?
Management options include: 1. Cessation of any obvious triggers (sun avoidance, protective clothing, sunscreen). 2. Photoprotection is central to management. 3. Epidermal pigmentation is more responsive to topical therapy. 4. Gold standard: 4% hydroquinone. 5. Nonprescription products containing soy, licorice, lignin peroxidase, and niacinamide. 6. Tretinoin, azelaic acid, and kojic acid are helpful when used for prolonged periods.
What is the histopathological finding in ephelides and how does it affect management?
Histopathology shows a normal to reduced number of hypertrophic melanocytes and increased melanin in the basal epidermal layer. Management focuses on photoprotection and topical depigmenting agents, with Q-switched lasers being preferred, although relapse is common.
What are the key characteristics and management strategies for postinflammatory hyperpigmentation (PIH)?
PIH is more common in individuals with skin of color and results from preceding inflammatory insults. Key characteristics include macular hyperpigmentation at the site of inflammation. Management includes photoprotection, early treatment of primary dermatosis, and topical agents like hydroquinone, with the gold standard being topical hydroquinone.
What are the clinical features and management options for melasma?
Melasma, also known as chloasma or the mask of pregnancy, presents as diffuse light-brown to dark-brown poorly circumscribed macules on the central face, primarily affecting premenopausal women. Management includes cessation of triggers, photoprotection, and topical therapies, with 4% hydroquinone as the gold standard.
How does the histology of acromelanosis progressiva differ from other forms of hyperpigmentation, and what is its management?
Acromelanosis progressiva shows increased basal epidermal melanocytes and is characterized by acquired circumscribed hyperpigmentation in newborns. The lesions typically fade spontaneously, and management involves reassurance as treatment is not required.
What is the diagnosis and recommended management for a fair-skinned individual with red hair presenting with small light-brown macules on sun-exposed areas?
The diagnosis is Ephelides (freckles). Management includes photoprotection and, if desired, topical depigmenting agents or laser treatments.
What is the diagnosis and prognosis for a newborn with diffuse brown hyperpigmentation on acral areas?
The diagnosis is Acromelanosis Progressiva. The prognosis is good, as lesions fade spontaneously without treatment.
What is the diagnosis for a patient with macular hyperpigmentation at the site of a previous inflammatory lesion, and how can the depth of pigmentation be assessed?
The diagnosis is Postinflammatory Hyperpigmentation (PIH). The depth of pigmentation can be assessed using a Wood lamp examination.
What is the diagnosis and gold standard treatment for a premenopausal woman with poorly circumscribed light-brown macules on her central face?
The diagnosis is Melasma. The gold standard treatment is 4% hydroquinone.
What is the diagnosis for a patient with light-brown macules on their trunk that fade during winter, and what genetic mutation is associated?
The diagnosis is Ephelides (freckles). The associated genetic mutation is in the MCR-1 gene.
What is the diagnosis for a patient with macular hyperpigmentation following a drug reaction, and what is the gold standard treatment?
The diagnosis is Postinflammatory Hyperpigmentation (PIH). The gold standard treatment is topical hydroquinone.
What is the diagnosis for a patient with poorly circumscribed macules on their face that worsen with sun exposure, and what are the specific precipitants?
The diagnosis is Melasma. Specific precipitants include oral contraceptives, estrogen replacement therapy, and UV exposure.
What is Partial Unilateral Lentiginosis and how is it characterized?
Partial Unilateral Lentiginosis, also known as unilateral lentigines, is a rare pigmentary disorder that usually appears at birth or in childhood. It is characterized by numerous lentigines with sharp margins occurring in a segmental pattern in the midline in one or more dermatomes. Diagnosis is usually clinical, and it persists throughout life without complications. Management includes Q-switched alexandrite and Nd:YAG lasers.
What are the key features of Riehl Melanosis?
Riehl Melanosis, also known as female facial melanosis, is characterized by rapid onset of reticular gray-brown to almost black reticulate hyperpigmentation, primarily affecting the face and neck. It is mostly seen in middle-aged women with darker skin types. The pathogenesis is not fully understood, but it is thought to be induced by repeated contact with contact sensitizers. Management is challenging and includes cessation of the topical sensitizer, photoprotection, and topical depigmenting agents.
What is the clinical significance of Chronkhite-Canada Syndrome?
Chronkhite-Canada Syndrome is a very rare condition that presents with cutaneous and gastrointestinal manifestations, typically in the 4th decade of life. It is characterized by brown macules and patches on the palms and soles, along with GI symptoms such as abdominal pain and diarrhea. Complications can include protein and electrolyte imbalance and portal vein thrombosis. The condition is suspected to be autoimmune, and clinicopathologic correlation is required for diagnosis.
What are the management strategies for Erythrose Peribuccal of Brocq?
Management strategies for Erythrose Peribuccal of Brocq include photoprotection and avoidance of triggers. This condition is characterized by erythema followed by diffuse pigmentation in the perioral region, primarily affecting women. The etiology is unknown, and the condition usually progresses over time.
What are the histological findings in Erythema Dyschromicum Perstans?
Histological findings in Erythema Dyschromicum Perstans include early lesions revealing dermal edema and lichenoid inflammation, basal layer vacuolization, and colloid bodies with perivascular infiltrate. Later stages show melanin incontinence in the deep dermis along with melanophages. This condition presents with well-demarcated blue-gray macules on photoprotected sites and is chronic and difficult to treat.
What is Lichen Planus Pigmentosus and its clinical presentation?
Lichen Planus Pigmentosus is considered a variant of lichen planus, mainly observed in middle-aged individuals with deeply pigmented skin. It presents as symmetrical brown to gray-brown poorly demarcated macules and patches primarily in photoexposed sites, such as the forehead and neck. It rarely appears on mucous membranes, and the etiology is unknown, although certain substances are suspected. Biopsy and clinicopathologic correlation are critical for diagnosis.
What are the key characteristics and management strategies for Partial Unilateral Lentiginosis?
Aspect | Details |
|—————–|————————————————————————-|
| Characteristics | Rare pigmentary disorder, appears at birth or childhood, segmental pattern |
| Associations | Café-au-lait spots, Lisch nodules, neurofibromas (variant of mosaic NF1) |
| Diagnosis | Clinical, persists throughout life without complications |
| Management | Q-switched alexandrite and Nd:YAG lasers recommended
What is Riehl Melanosis and how is it managed?
Aspect | Details |
|—————-|————————————————————————-|
| Overview | Affects middle-aged women, rapid onset of gray-brown hyperpigmentation |
| Pathogenesis | Induced by contact sensitizers (e.g., fragrances, pigments) |
| Histology | Liquefactive degeneration of basal layer, pigment incontinence |
| Management | Cessation of sensitizer, photoprotection, limited effect of depigmenting agents |
Describe the clinical features and management of Erythema Dyschromicum Perstans.
Aspect | Details |
|—————-|————————————————————————-|
| Clinical Features | Blue-gray macules on photoprotected sites, may expand over time |
| Histology | Dermal edema, lichenoid inflammation, melanin incontinence |
| Management | Minimal improvement with systemic therapy (e.g., Dapsone, clofazimine) |
What are the characteristics and management options for Lichen Planus Pigmentosus?
Aspect | Details |
|—————-|————————————————————————-|
| Characteristics | Symmetrical brown-gray macules, primarily in sun-exposed areas |
| Etiology | Unknown, potential causes include amla and mustard |
| Management | Biopsy for diagnosis, limited treatment options
What is the diagnosis and significance for a patient with unilateral lentigines in a segmental pattern along dermatomes?
The diagnosis is Partial Unilateral Lentiginosis. It may suggest a variant of mosaic NF1 if accompanied by café-au-lait spots or neurofibromas.
What is the likely diagnosis and first management step for a middle-aged woman with rapid-onset reticular gray-brown hyperpigmentation on her face and neck?
The likely diagnosis is Riehl Melanosis. The first management step is cessation of the topical sensitizer causing the condition.
What is the diagnosis for a patient with brown macules on their palms and soles, along with GI symptoms like diarrhea and weight loss, and what systemic complications should be monitored?
The diagnosis is Cronkhite-Canada Syndrome. Systemic complications include protein and electrolyte imbalance, anemia, and potential malignancies.
What is the diagnosis for a woman with diffuse light-brown pigmentation around her perioral region, sparing the vermilion border, and what triggers should be avoided?
The diagnosis is Erythrose Peribuccal of Brocq. Triggers such as UV exposure and fragrances should be avoided.
What is the diagnosis for a young adult with widespread asymptomatic blue-gray macules on photoprotected sites, and what is the prognosis?
The diagnosis is Erythema Dyschromicum Perstans. The prognosis is chronic with slow progression, and spontaneous regression is rare.
What condition should be considered for a patient with unilateral lentigines and café-au-lait spots, and what is the diagnostic approach?
The condition to consider is Partial Unilateral Lentiginosis, possibly a variant of mosaic NF1. Diagnosis is usually clinical.
What is the diagnosis for a patient with reticular hyperpigmentation on their face after using a new cosmetic product, and what histological findings are expected?
The diagnosis is Riehl Melanosis. Histological findings include liquefactive degeneration of the basal layer and pigment incontinence in the dermis.
What is the diagnosis for a patient with brown macules on their palms and GI symptoms, and what histological features are expected?
The diagnosis is Cronkhite-Canada Syndrome. Histological features include increased epidermal melanin, dermal melanosis, and compact hyperkeratosis of the epidermis.
What is the diagnosis for a patient with diffuse pigmentation around their lips, sparing the vermilion border, and what management is recommended?
The diagnosis is Erythrose Peribuccal of Brocq. Management includes photoprotection and avoidance of triggers.
What is the diagnosis for a patient with widespread blue-gray macules on photoprotected sites, and what systemic therapy may be considered?
The diagnosis is Erythema Dyschromicum Perstans. Systemic therapy with Dapsone or Clofazimine may be considered.
What is the histological finding in Idiopathic Eruptive Macular Hyperpigmentation?
Increased melanin in the basal epidermis and melanophages demonstrated in the dermis, with no basal layer change or lichenoid inflammation noted.
What are the characteristics of Dyschromatosis Hereditaria Universalis?
It is a rare autosomal dominant disorder characterized by pinpoint to pea-sized hypopigmented and hyperpigmented macules, distributed in a reticulated pattern over the trunk, abdomen, and limbs, usually sparing the face and palmoplantar surfaces.
What is the management for Idiopathic Eruptive Macular Hyperpigmentation?
Possible treatments include retinoids, alpha hydroxy acids, and hydroquinone, although spontaneous resolution in most cases may not require treatment.
What is the clinical presentation of Vagabond Leukoderma?
It is characterized by diffuse light brown hyperpigmentation at the shoulder and waist girdle, with depigmented macules on the neck and back, often seen in individuals living in poor hygienic conditions.
What is the etiology of Idiopathic Eruptive Macular Hyperpigmentation?
The etiology is unknown, and there are no preceding inflammation or extracutaneous manifestations noted.
What are the key features of Reticulate Acropigmentation of Dohi?
It is characterized by small, symmetric, hyperpigmented and hypopigmented macules in the dorsal hands and feet, mainly seen in young children from South American and Asian families.
What is Familial Progressive Hyperpigmentation associated with Westerhof Syndrome?
It is an autosomal dominant condition caused by a heterozygous mutation in the KIT ligand gene, presenting at birth or early infancy with diffuse hyperpigmentation and café-au-lait macules.
What is the histological finding in Idiopathic Eruptive Macular Hyperpigmentation?
Histology shows increased melanin in the basal epidermis and melanophages demonstrated in the dermis, with no basal layer change or lichenoid inflammation noted.
What are the management options for Idiopathic Eruptive Macular Hyperpigmentation?
Management options include retinoids, alpha hydroxy acids, and hydroquinone, although treatment may not be needed due to spontaneous resolution in most cases.
What characterizes Dyschromatosis Hereditaria Universalis?
It is characterized by pinpoint to pea-sized hypopigmented and hyperpigmented macules distributed in a reticulated pattern over the trunk, abdomen, and limbs, usually sparing the face and palmoplantar surfaces.
What is the clinical presentation of Familial Progressive Hyperpigmentation with or without Hypopigmentation?
This condition presents at birth or early infancy with diffuse hyperpigmentation and may demonstrate.
What is the clinical presentation of Familial Progressive Hyperpigmentation with or without Hypopigmentation?
This condition presents at birth or early infancy with diffuse hyperpigmentation and may demonstrate café-au-lait macules and larger hypopigmented ash-leaf macules on the face, neck, trunk, and limbs.
What is Vagabond Leukoderma and its associated conditions?
Vagabond Leukoderma is found in persons living in poor hygienic conditions, often abusing alcohol, having inadequate diets, and infested with lice or scabies. It presents with diffuse light brown hyperpigmentation and depigmented macules, improving with a healthier lifestyle.
A middle-aged individual with deeply pigmented skin presents with symmetrical gray-brown macules on their forehead and neck. What is the diagnosis, and what management options are available?
The diagnosis is Lichen Planus Pigmentosus. Management includes photoprotection, topical tacrolimus, corticosteroids, and isotretinoin.
A child presents with asymptomatic, well-demarcated brown macules on their trunk and proximal extremities. What is the diagnosis, and what is the expected course?
The diagnosis is Idiopathic Eruptive Macular Hyperpigmentation. Lesions typically resolve spontaneously over months to years.
A Japanese child presents with pinpoint hypopigmented and hyperpigmented macules in a reticulated pattern on their trunk. What is the diagnosis, and what is the genetic basis?
The diagnosis is Dyschromatosis Hereditaria Universalis, caused by a mutation in the ABCB6 gene.
A child from South America presents with symmetric hyperpigmented and hypopigmented macules on their dorsal hands and feet. What is the diagnosis?
The diagnosis is Reticulate Acropigmentation of Dohi.
A newborn presents with diffuse hyperpigmentation and café-au-lait macules. What genetic mutation is likely involved?
The condition is Familial Progressive Hyperpigmentation, likely caused by a heterozygous mutation in the KIT ligand gene.
A patient living in poor hygienic conditions presents with diffuse light-brown hyperpigmentation and depigmented macules on their back. What is the diagnosis, and what is the management?
The diagnosis is Vagabond Leukoderma. Management includes improving hygiene and addressing coexisting conditions.
A patient presents with symmetrical gray-brown macules on their forehead and axillae. What is the diagnosis, and what are the histological findings?
The diagnosis is Lichen Planus Pigmentosus. Histological findings include epidermal atrophy, basal layer vacuolation, and melanophages in the superficial dermis.
