Disorders of Hyperpigmentation Flashcards
Lichen Planus Pigmentosus
favors Skin Types III-V; oval round/brown/gray macules and patches in sun-exposed or intertriginous zones; NO erythematous border (whereas EDP does)
Nevus of Ota
blue/back or gray/brown at 1st or 2nd branch of trigeminal nerve; distinguish bilateral from Hori nevus (acquired bilateral nevus of Ota-like macules; no mucosal involvement and less pigmented)
Nevus of Ito
skin of acromioclavicular and deltoid region
Mongolian Spots
dermal melanocytosis; preferentially in sacral area; most show spontaneous regression; histo w/ spindle-shaped melanocytes (in lower dermis; failed to migrate to DEJ)
Dermal Melanocyte Hamartoma
gray-blue pigmentation in dermatomal pattern
Peutz-Jeghers Syndrome
Gene: (AD) STK11
Features: mucocutaneous pigmentation and intestinal hamartomatous polyposis; assoc with GI malignancies; begins in childhood
LEOPARD Syndrome
Gene: (AD) PTPN11 Lentigines EKG abnormalities Ocular hypertelorism Pulmonary stenosis Abnormal genitalia Retardation of growth Deafness sensorineural
Carney Complex (NAME/LAMB)
Gene: (AD) PRKAR-1alpha Triad of 1. primary adrenal hypercortisolism; 2. lentigenes, ephelides, and blue nevi of skin/mucosa; 3. variety of tumors of endocrine and non-endocrine origin (cardiac, cutan and mammary myxomas; overactive endocrine and adrenocortical disease; psammomatous melanotic schwannoma) Nevi Atrial myxoma Myxoid neurofibroma Ephelides aka Lentigenes Atrial myxoma Mucocutaneous myxoma Blue nevi
McCune Albright Syndrome
Gene: GNAS1 (activating G protein –> const cAMP)
Features: 1. poly/monostotic fibrous dysplasia
2. CALMs
3. Hyperfxning endocrinopathies (precocious puberty, hyperthyroidism, hypercortisolism, hypersomatotropism, hypophosphatemic rickets)
Russell Silver Syndrome
low birth weight, short stature, small triangular face, clinodactyly of 5th finger; CALMs variable feature
Primary Cutaneous Amyloidosis
- Macular (upper back)
- Lichenoid (extensor surface lower extremities)
- Nodular
Atrophoderma of Pasini and Pierini
oval hyperpigmented patches on posterior trunk w/ subtle depression of entire lesion and “cliff sign”
Bleomycin Hyperpigmentation
Flagellate bands on chest/back; pigmented banding of nails
Adriamycin Hyperpigmentation
pigmented patches on oral mucosa (esp lateral tongue)
5-FU Hyperpigmentation
hyperpigmentation of sun-exposed skin
Argyria
silver exposure (occupational, use of silver sulfadiaine): diffuse slate-gray discoloration w/ accentuation in sun-exposed areas, nails, sclera
Chrysiasis
gold exposures; blue grey hyperpigmentation on sun-exposed areas
Drugs that can cause hyperpigmentation
Amiodarone, AZT (mucous membranes/nails), Clofazimine, Hydroquinone, minocycline, psoralens, hydroxychloroquine/chloroquine, quinacrine
Exogenous Ochronosis
hyperpigmentation following hydroquinone applications
Endocrinopathies leading to Diffuse Non-Figured Hypermelanosis
Addisons, Cushing Syndrome, Nelson Syndrome, Pheochromocytoma, Carcinoid, Hyperthyroidism, pregnancy, acanthosis nigricans, diabetes
Nutritional Hyperpigmentation
Kwashiorkor, Vit B12 def, Folic acid def, pellagra
Metabolic Conditions causing Hyperpigmentation
PCT, hemochromatosis
Causes of Linear Hyperpigmentation
- Phytophotodermatitis
- Pigmentary Demarcation Lines
- Flagellate Pigmentation from Bleomycin
- Flagellate Mushroom Dermatitis (raw shiitake mushrooms)
- If along Lines of Blaschko:
- Linear and Whorled Nevoid Hypermelanosis
- Incontinentia Pigmenti (x-linked dominant)
Incontinentia Pigmenti
Gene: (X-linked dominant) NEMO (nf kappa b anti-apoptotic); most males embryonic lethal
Features: 4 stages:
1. Vesicles (from birth or shortly after)
2. Verrucous lesions (2-8 weeks)
3. Hyperpigmentation (sev months - adulthood)
4. Hypopigmentation (infancy to adulthood in stage IV)
Many of ocular, dental, skeletal, CNS anomalies
Common causes of Reticulated Hyperpigmentation
CARP, Erythema ab igne, livedo reticularis, atopic dermatitis
Dyskeratosis Congenita
Gene: (X-linked recessive) DKC1 (dyskerin, interacts w/ telomerase; mut leads to defective telomerase maintenance; melanocytes become senescent and make more melanin); 90% male
Features:
TRIAD: reticulated hyperpigmentation of neck; nail dystrophy; premalignant leukoplakia (all dev in 1st decade)
Other: malformed teeth, epiphora (continuous lacrimation), bone marrow failure, malignancy (SCC) increased risk of myelodysplasia, AML, Hodgkin’s disease, and GI carcinoma
Naegeli-Franceschetti-Jadassohn Syndrome
Gene: (AD) Keratin 14
Features: reticulated hyperpigmentation (primarily abd, periocular, perioral) in 1-2yrs of life (fades during adolescence)
Also: dental anomalies (early total loss of teeth), heat intolerance, hypohidrosis; absent or hypoplastic dermatoglyphics, palmoplantar hyperkeratosis, onychodystrophy
Dermatopathia Pigmentosa Reticularis
Gene: (AD) Keratin 14 Features: TRIAD 1. persistent reticulated hyperpigmentation w/ truncal predominance 2. nonscarring alopecia 3. onychodystrophy
X-Linked Reticulate Pigmentary Disorder
- reticulated hyperpigmentation (along lines of Blaschko in girls; generalized in males)
- frequent infxns and systemic manifestations
- blonde unruly hair w/ frontal upsweep
Dowling-Degos Disease
Gene: Keratin 5 (AD); onset 3rd-4th decade
Features:
-Acquired reticulated hyperpigmentation beginning in axillae and inguinal folds (later others like flexures)
-Comedone-like lesions on back/neck
-Pitted facial scars
-Epidermoid cysts
[Assoc with HS]
Galli-Galli
equivalent to Dowling-Degos but with suprabasilar non-dyskeratotic acantholysis on path
DD:
Gene: Keratin 5 (AD); onset 3rd-4th decade
Features:
-Acquired reticulated hyperpigmentation beginning in axillae and inguinal folds (later others like flexures)
-Comedone-like lesions on back/neck
-Pitted facial scars
-Epidermoid cysts
