Sec 7 Disorders of Epidermal Differentiation and Keratinization Flashcards
How many percent of contact dermatitis is irritant?
80%
Most important exogenous factor for ICD
Inherent toxicity of chemical for human skin
Major risk factor for irritant hand dermatitis because of impaired barrier function and lower threshold for skin irritation
Atopic dermatitis
Mainstay of treatment for ICD
Identification and avoidance of potential irritant
Mechanisms of ICD:
- Removal of surface lipids and water-holding substances
- Damage to cell membranes
- Epidermal keratin denaturation
- Direct cytotoxic effects
Key cytokine in ICD leading to increased expression of major histocompatibility complex class II and intracellular adhesion molecule 1 on keratinocytes
Tumor Necrosis Alpha-1 (TNA-1)
Hones naive T-lymphocytes to the skin and is elevated during irritant reactions
CCL21
Upregulation of this plays a major role in the hardening phenomenon in cutaneous irritation
Ceramide 1 synthesis
Exogenous factors influencing cutaneous reaction
- Chemical properties 2. Characteristics of exposure 3. Environmental factors 4. Mechanical factors 5. UV radiation
A synergistic or antagonistic effect that occurs as a consequence of specific cellular interactions between compounds that would not occur when irritant is used alone
Crossover phenomenon
T or F: Visible skin irritation (erythema) is decreased in older persons while invisible skin irritation (barrier damage) is increased in elderly
True
Endogenous factors influencing cutaneous reaction
- Primary sensitive skin 2. Lack of hardening 3. Atopic dermatitis 4. Skin site 5. Skin permeability 6. Secondary hyperirritability of the skin (status eczematicus) 7. Individual (genetic) susceptibility
Sites more susceptible to ICD
Face Neck Scrotum Dorsal hands
T or F: A history of atopy is a well-known risk factor for ICD
True
Clinically presents as an acute, often multiple monomorphic reaction that includes scaling, low-grade erythema, vesicles or erosions usually on the dorsum of hands and finger
Irritant reaction
Results from a single skin exposure to a strong irritant or caustic chemical with sensation of burning, itching or stinging; heals after 4 weeks with good prognosis
Acute ICD
Acute reaction but without visible signs of inflammation until 8-24 hours or more after exposure; good prognosis
Delayed acute irritancy
Most frequent type of contact dermatitis in clinical practice; aka traumiterative ICD; with symptoms appearing after days, month or years; prognosis variable
Chronic cummulative ICD
Patients complain of itching, tingling, stinging, burning within minutes of contact with an irritant without visible cutaneous changes; usually on face, head and neck
Subjective irritancy
Irritation is not visually apparent but histologically apparent; common in use of surfactant
Suberythematous irritation
Mechanical irritation from repeated microtrauma and friction; usually leads to dry, hyperkeratotic abraded skin
Frictional dermatitis
Develop after acute skin trauma as burns or lacerations; most commonly on the hands; can persist for about 6 weeks or more; resembles nummular dermatitis
Traumatic dermatitis
Usually seen after exposure to oils, tars, heavy metals and halogens but also after use of cosmetics; pustules are sterile; seen is atopic and seborrheic patients
Pustular or acneiform reactions
Characterized by intense itching, dry skin and ichthyosiform scaling
Asteatotic irritant reaction
Most common irritants
Soaps Detergents Waterless cleansers
Most frequently used procedure to quantify impaired functions of the stratum corneum
TEWL measurement
Novel approach to detect ICD susceptibility
TNF-a gene polymorphism
Hallmarks of ICD
Stratum corneum disruption Hyperproliferation Epidermal necrosis
Facilitates the differentiation of acute ACD from ICD
Reflectance-mode confocal microscopy
Irritant patch test results
Erythema +/- papules confined to test site
Gene-Protein: Ichthyosis Vulgaris
FLG - Fillagrin
Gene-Protein: Epidermolytic Hyperkeratosis
KRT1, KRT10; KRT9 (Vorner type) - Keratin 1 or 10
Gene-Protein: Ichthyosis bullosa of Siemens
KRT2 - Keratin 2
Gene-Protein: Ichthyosis hystrix of Curth and Macklin
KRT1 - Keratin 1
Gene-Protein: Annular epidermolytic erythema
KRT1, KRT10 - Keratin 1 or 10
Gene-Protein: Erythrokeratodermia variabilis
GJB3 or GJB4 - Connexin 31 or 30.3
Gene-Protein: Progressive symmetric erythrokeratodermia
LOR or GJB4 - Connexin 30.3
Gene-Protein: Keratitis-Ichthyosis-Deafness
GJB2, GJB6 - Connexin 26, 30
Gene-Protein: X-linked Recessive Ichthyosis
STS - Steroid Sulfatase
Gene-Protein: Chondrodysplasia punctata X-linked recessive
ARSE - Arylsulfatase E
Gene-Protein: X-linked dominant Chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome)
EBP - Emapomil Binding Protein
Gene-Protein: CHILD syndrome
NSDHL; EBP - 3-B-hydroxysteroid-isomerase
Gene-Protein: Harlequin Ichthyosis
ABCA12 - ATP-binding cassette subfamily A, member 12
Gene-Protein: Ichthyosis prematurity syndrome
FATP4 - Fatty acid transport protein 4
Gene-Protein: Netherton syndrome
SPINK5 - LEKT1
Gene-Protein: Sjogren-Larsson syndrome
FALDH (ALDH10, ADH3A2) - Fatty aldehyde dehydrogenase
Gene-Protein: Refsum disease
PAHX - Phytanoyl-CoA hydroxylase PEX7
Gene-Protein: Trichothiodystrophy
ERCC2 - (XPD) ERCC3 - (XPB), TTDA, TTDN1
Gene: Chanarin-Dorfman syndrome (neutral lipid storage disease)
CGI-58
Gene-Protein: Neonatal ichthyosis-sclerosing cholangitis
CLDN1 - Claudin 1
Gene-Protein: Multiple sulfatase deficiency
SUMF1 - C-formylglycine generating enzyme
Gene-Protein: Peeling Skin Syndrome Type A
TGM5 - Transglutaminase 5
Ichthyosis - Structural proteins
Transglutaminase 1 Filaggrin Keratins Loricrin
Ichthyosis - Intercellular junctions
Plakoglobin Claudin 1 Desmoplakin Desmoglein
Ichthyosis - Lipid metabolism
Hepoxilin pathway Lamellar granule maturation and secretion Steroid dehydrogenase Sterol isomerase Steroid sulfatase Fatty acid transport Fatty aldehyde and fatty acid metabolism Phytanic acid catabolism
Ichthyosis - Intercellular communication
Gap junction protein: Connexins
Ichthyosis - Protein metabolism
Proteosome Protein trafficking by intracellular vesicles Protease inhibitor Protease
Ichthyosis - Calcium homeostasis
Ca++ dependent ATPase
ARCI - Cornified envelope formation
TGM1 Tranglutaminase 1
ARCI - Membrane transport/lipid metabolism
ABCA12 ATP-binding cassette, subfamily A, member 12
ARCI - Hydroperoxide isomerase
ALOXE3 Arachidonate lipoxygenase (eLOX3)
ARCI - Lipoxygenase
ALOX12B Arachidonate 12-lipoxygenase, R type
ARCI - Trioxilin A3 receptor or Hepoxylin pathway
Ichthyin
ARCI - LTB-w-hydroxylase
FLJ39501 (CYP4F22) Cytochrome P450, family 4, subfamily F, polypeptide 2
Disorders associated with Collodion Membrane
AEC syndrome Autosomal recessive congential ichthyosis Chondrodysplasia punctata Gaucher disease Loricrin keratoderma Neutral lipid storage disease Self-healing collodion baby Sjogren-Larsson syndrome Trichothiodystrophy X-linked hypohydrotic ectodermal dysplasia
Histopathologic feature that corresponds to the raised hyperkeratotic border
Cornoid lamella
Type of Porokeratosis that presents as asymptomatic brown to skin-colored papules with a characteristic annular border; has longitudinal furrow; usually localized and unilateral
Porokeratosis of Mibelli
Most common porokeratosis
Disseminated superficial actinic porokeratosis
Type of Porokeratosis that presents with uniformly small annular asymptomatic or mildy pruritic papules typically more than 50 distributed symmetrically on the extremities predominantly on sun-exposed areas; autosomal dominant
Disseminated superficial actinic porokeratosis
Type of Porokeratosis with AD inheritance, onset at 3rd-4th decades, presents with uniformly small annular asymptomatic or mildy pruritic papules distributed symmetrically on the extremities but do not spare sun protected areas
Disseminated superficial porokeratosis
Type of Porokeratosis recognized after transplantation, irradiation, chemotherapy, use of systemic steroids; malignancies; HIV infection
Disseminated superficial porokeratosis of immunosuppression
Porokeratosis with highest potential for malignant degeneration
Linear porokeratosis
Type of Porokeratosis that may either present as unilateral lesion confined to an extremity following Blashko’s lines or a generalized form with multiple lesions affecting extremities and the trunk
Linear porokeratosis
Type of Porokeratosis with AD inheritance onset at adolescence, more common in males, presenting with small uniform lesions initially on palms and soles spreading to involve other parts of the body
Porokeratosis palmaris et plantaris disseminata
Type of Porokeratosis that may be seen concomitantly with other types; presenting with multiple minute and discrete punctate, hyperkeratotic lesions surrounded by a thin, raised margin on palms and soles
Punctate porokeratosis
CAP syndrome - AD
Craniosynosthosis Anal anomalies Porokeratosis
CDAGS syndrome - AD
Craniosynosthosis and clavicular hypoplasia Delayed closure of the fontanel Anal anomalies Genitourinary malformations Skin eruption
Associated tumors with Porokeratosis
Squamous cell carcinoma Bowen disease Basal cell carcinoma
First line therapy: Porokeratosis
Photoprotection 5-Fluorouracil Cryotheraphy
Second line therapy: Porokeratosis
Calcipotriol Imiquimoid Topical corticosteroids Topical retinoids CO2 laser vaporization
Enzyme that catalyzes the cross-linking of proteins and attachment of ceramides during the formation of corneocytes found in 55% of ARCI
Transglutaminase-1
Controls the hydrolysis of cholesterol sulfate in corneocytes and important in the regulation of corneocyte desquamation
Steroid sulfatase
Encodes serin protease inhibitor LEKTI and has role for proteolysis and protease inhibitors in normal epidermal differentiation
SPINK5
Most common ichthyosis
Ichthyosis Vulgaris
AD inherited disease that manifests within first year with fine, white scales most prominent on the extensor surfaces and flexural sparing. Associated with hyperlinear palms, palmar/plantar thickening, keratosis pilaris and atopy. Worsens in dry cool and improve with hot, humid conditions.
Ichthyosis Vulgaris
Involved in the aggregation of keratin filaments that form a network or cell matrix
Fillagrin
Low maternal urinary estrogens
Steroid sulfatase deficiency
X-linked recessive seen usually begins in newborn period and most prominent on extensors, more severe involvement associated with comma-shaped corneal opacities. With increased risk for crytochordism and testicular cancer
X-linked Ichthyosis
Compact orthohyperkeratosis, acanthosis, papillomatosis with accentuated granular layer
X-linked Ichthyosis
Heterogenous group of disorders that present at birth with generalized involvement of the skin
Autosomal recessive congenital ichthyosis
Apparent at birth with collodion membrane. Presents with large, dark plate-like scales, infants may be red at birth but adults have little to no erythroderma. There is tautness of skin leading to ectropion, eclabium and scarring alopecia at the periphery of the scalp. With heat intolerance.
Lamellar ichthyosis
Apparent at birth with taut collodion membrane, presents with general redness with fine white scales
Congenital ichthyosiform erythroderma
Involved in the formation of stratum corneum. Attaches ceramides secreted into the intercellular space by lamellar bodies to cornified envelope proteins.
Transglutaminase 1
Unusual form of Lamellar ichthyosis where there are large, dark plate-like scales but limited to the bathing suit area
Bathing suit ichthyosis
Thickened stratum cornuem with vacuolar degeneration of the epidermis and suprabasilar keratinocytes with keratohyaline granular cells that are dense, enlarged irregular shaped masses.
Epidermolytic hyperkeratosis
Presents at birth with blistering redness and peeling then generalized hyperkeratosis develops. Has a characteristic pungent odor.
Epidermolytic hyperkeratosis
EHK (-) palm and soles normal palm/sole surface no digital contractures hystrix - porcupine-like spiny papules generalized distribution no erythroderma with blistering KRT10
NPS-1
EHK (-) palm and soles normal palm/sole surface no digital contractures brown scales generalized distribution no erythroderma with blistering KRT10
NPS-2
EHK (-) palm and soles hyperlinear palm/sole surface no digital contractures fine, white scales generalized distribution with erythroderma with blistering KRT10
NPS-3
EHK (+) palm and soles smooth palm/sole surface no digital contractures mild scales localized distribution - trunk no erythroderma localized blistering KRT1
PS-1
EHK (+) palm and soles smooth palm/sole surface with contractures - volar; ainhum-like white scales to peeling generalized distribution with erythroderma with blistering KRT1
PS-2
EHK (+) palm and soles pebbly, cerebriform palm/sole surface no digital contractures tan scales generalized distribution no erythroderma neonatal blistering KRT1
PS-3
EHK limited exclusively to the palms and soles involving only Keratin 9
Vorner type
Rare autosomal dominant genodermatosis born with redness and blistering which subsides over next weeks to month and develops dark gray hyperkeratosis. Epidermis is fragile resulting to a collarette-like depressed area described as mauserung (molting)
Ichthyosis Bullosa of Siemens
Rare autosomal dominant genodermatosis with widespread patchy, thick, gray-brown hyperkeratosis most marked on extensors of arms and legs
Ichthyosis Hystrix of Curth and Macklin
Presents at birth or in first months with severe, intermittent scaling and blisters that resolves during puberty with residual limited thickened plaques of verrucous scale in linear rows seen in flexural and intertriginous skin. Then develops widespread, migratory, polycyclic and annular scaling plaques.
Annular epidermolytic erythema
Born enclosed in a translucent parchment-like membrane that is taut with impaired sucking and respiration. Birth is often premature.
Collodion baby
Often with premature birth, presents with massive, shiny plates of stratum corneum separated by deep red fissure that form geometric pattern with underdeveloped ears with ectropion and eclabium.
Harlequin ichthyosis
Rare autosomal recessive disorder characterized by ichthyosis, structural hair shaft abnormality and atopy (with marked IgE elevation).
Netherton syndrome
Usual skin manifestation of Netherton syndrom
Ichthyosis linearis circumflexa - generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with migratory double-edged scale at the margins
Hair shaft abnormality in Netherton syndrome which is the telescoping of the distal segment into the proximal segment
Trichorrhexis invaginata or “bamboo hair”
ARC syndrome
Arthrogryphosis Renal tubular dysfunction Cholestasis
CEDNIK syndrome
CErebral Dysgenesis Neuropathy Ichthyosis Keratoderma
Lamellar granules are retained within the cornified layer resulting in reduced secretion of lipids and proteases into extracellular space results in impaired barrier function and decreased corneocyte disadhesion
CEDNIK syndrome
Autosomal recessive neutral lipid storage disease disorder wth accumulation of triglycerides in the cytoplasm. Presents with generalized fine scaling with variable erythema; with ectropion and eclabium
Chanarin-Dorfman Syndrome
CHILD syndrome
Congenital Hemidysplasia Ichthyosiform erythroderma Limb Defects
Present with skin and skeletal abnormalities but with sharp midline demarcation with right more commonly involved and ipsilateral involvement of the limb defects (digital hypoplasia to agenesis of extremity)
X-linked dominant chondrodysplasia punctata
AKA Peroxisomal biogenesis disorder complementation group 11 (CG11)
Rhizomelic chondrodysplasia punctata
Rare, multisystem disorder characterized by dwarfism due to symmetric shortening of proximal long bones, joint contractures, congenital cataracts, ichthyosis, and severe MR.
Rhizomelic chondrodysplasia punctata
Radiologic abnormalities in Rhizomelic chondrodysplasia punctata
Presence of stippled calcifications of cartilage Vertebral body clefting
Involve skin with linear or whorled ichthyosis, hair with coarse lackluster cicatricial alopecia, short stature, skelatal abnormalities, cataracts and deafness
X-linked recessive chondrodysplasia punctata
AKA Conradi-Hunnermann-Happle syndrome
X-linked dominant chondrodysplasia punctata
Exclusive in females, lethal to males; Presents at birth as congenital ichthyosiform erythroderma that clear over months replaced by linear hyperkeratosis, follicular atrophoderma, and pigmentary abnormalities. Also with hair shaft abnormalities, stippled calicifications in Xray, short stature, asymmetric shortening of the legs, and cataracts.
X-linked dominant chondrodysplasia punctata
Presents as congenital ichthyosiform erthroderma with small islands of normal appearing skin beginning in late childhood
Congenital reticular ichthyosiform erythroderma
Presents at birth to first year of life with generalized, persistent, red-brown, hyperkeratotic plaques with migratory red patches regressing over minutes to hours
Erythrokeratodermia variabilis - generalized type
Presents at birth to first year of life with limited extent characterized by sharply demarcated, hyperkeratotic plaques symmetrically arrayed with migratory red patches regressing over minutes to hours
Erythrokeratodermia variabilis - localized type
Characterized by well-demarcated erythematous hyperkeratotic plaques symmetrically distributed over the extremities, buttocks and face sparing trunk with plaques remaining stable
Progressive symmetric erythrokeratodermia
IFAP syndrome
Ichthyosis Follicularis Alopecia (total non-scarring) Photophobia
Results in premature delivery of infants with erythrodermic, edematous, caseous scaling skin resembling excessive caseosa, respiratory distress and transient peripheral eosinophilia.
Ichthyosiform prematurity syndrome
KID syndrome
Keratitis (progressive corneal opacity) Ichthyosis (discrete symmetric hyperkeratosis) Deafness (neurosensory)
KLICK syndrome
Keratosis Linearis Ichthyosis Congenita (sclerosing) Keratoderma
Rare AD ichthyosis with palmoplantar keratoderma, constricting bands, and flexural deformities of fingers and linear (striate) keratotic papules at flexures due to defect in POMP
KLICK syndrome
MEDNIK syndrome
Mental retardation Enteropathy Deafness (peripheral) Neuropathy Ichthyosis Keratodermia
Rare AR disorder characterized neurologic deterioration, skeletal abnormalities, facial dysmorphism, and ichthyosis
Multiple sulfatase deficiency
NISCH syndrome
Neonatal Ichthyosis Sclerosing CHolangitis
Presents with ichthyosis, sclerosing cholangitis, hypotrichosis with scarring alopecia and enamel dysplasia
NISCH syndrome
Autosomal recessive disorder with lifelong noninflammatory generalized peeling of the skin
Peeling skin syndrome type A
Autosomal recessive disorder with congenital ichthyosiform erythroderma evolving into erythematous scaling migratory patches usually pruritic
Peeling skin syndrome type B
Rare AR progressive, degenerative disorder of lipid metabolism presenting with retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, cranial verce dysfunction, miosis, ECG abnormalities, cardiomyopathy, renal tubular dysfunction and skeletal abnormalities, sometimes ichthyosis
Refsum disease
Poorly characterized disorder with epilepsy, mental retardation, infantilism, congenital ichthyosis and retinitis pigmentosa
Rud syndrome
Rare autosomal recessive disease with congenital ichthyosis, spastic paralysis and mental retardation
Sjogren-Larsson syndrome
Microsomal enzyme that catalyzes oxidation of fatty alcohol to fatty aldehyde and subsequently to fatty acid; important in for normal desquamation
FALDH
Autosomal recessive disorder with sulfur deficient brittle hair exhibiting tiger tail banding, photosensitivity, ichthyosis, intellectual impairment, short stature, microcephaly, recurrent infections, cataracts, dystrophic nails
Trichothiodystrophy
PIBIDS
Photosensitivity Ichthyosis Brittle hair Intellectual impairment Decreased fertility Short stature
Most common malignancy associated with acquired ichthyosis
Hodgkin disease
Acquired ichthyosis in HIV patients was found with coinfection with what virus
Human T cell leukemia (HTLV)
T or F: Acquired ichthyosis may be a marker for autoimmune disease
True
Acquired, sharply demarcated round to oval scaly patches with hypo- or hyperpigmentation
Pityriasis rotunda
Uncommon acuired ichthyosiform dematosis in young adults localized on neck, upper trunk and axillae.
Confluent and reticulated papillomatosis of Gougerout and Carteud
First line treatment for Confluent and reticulated papillomatosis of Gougerout and Carteud
Minocycline
Gene-Protein: Epidermolytic PPK
KRT9 - Keratin 9
Gene-Protein: Transgredient epidermolytic PPK
KRT1 - Keratin 1
Gene-Protein: Diffuse NEPPK (Unna-Throst)
KRT1 - Keratin 1
Gene-Protein: Ichthyosis hystrix
KRT1 - Keratin 1
Gene-Protein: Focal NEPPK
KRT6c, KRT16 - Keratin 6c, 16
Gene-Protein: Pachyonychia congenita type 1
KRT6a, KRT16 - Keratin 6a, 16
Gene-Protein: Pachyonychia congenita type 2
KRT6b, KRT17 - Keratin 6b, 17
Gene-Protein: Ectodermal dysplasia/Skin fragility syndrome
PKP1 - Plakophilin 1
Gene-Protein: Striate PPK
DSG1, DSP, KRT1 - Desmoglein 1, Desmoplakin 1, Kertain 1
Gene-Protein: Keratoderma with cardiomyopathy and wooly hair (Carvajal-Huerta)
DSP - Desmoplakin 1
Gene-Protein: Keratoderma with ARVC and wooly hair (Naxos)
JUP - Plakoglobin
Gene-Protein: Keratoderma with hearing loss (Vohwinkel, Bart-Pumphrey)
GJB2, GJB6 - Connexin 26, 30
Gene-Protein: Keratitis/Hystrix, Ichthyosis, Deafness
GJB2 - Connexin 26
Gene-Protein: Hidrotic ectodermal dysplasia (Clouston)
GJB6 - Connexin 30
Gene-Protein: Oculo-dental-digital dysplasia
GJA1 - Connexin 43
Gene-Protein: Mitochondrial keratoderma with hearing loss
MSST1 - Serine transfer RNA
Gene-Protein: Loricrin keratoderma
LOR - Loricrin (insertion mutation)
Gene-Protein: Keratoderma and periodontitis (Papillon-Leferve and Haim-Munk)
CTSC - Cathepsin C
Gene-Protein: Mal de meleda
ARSB - SLURP-1
Gene-Protein: Tylosis with oesophageal carcinoma (Howel-Evans)
RHBDF2 - inhibitor of active rhomboid protease
Gene-Protein: Odonto-onycho-dermal dysplasia (Schopf-Schultz-Passarge syndrome)
WNT10a - Signaling molecule implicated in development
Gene-Protein: Tyrosinemia type 2 (Richner-Hanhart)
TYR1 - Tyrosinase
Gene-Protein: KLICK
POMP - Protease maturation protein
Gene-Protein: CEDNIK
SNAP29 - SNARE protein involved in vesicular fusion
Gene-Protein: MEDNIK
AP1S1 - Subunit of O1A of adaptor protein-1 complex
Keratoderma associated with carcinoma
Huriez syndrome Olmstead syndrome
Inherited as AD presents in adults as multiple keratinizing papules varying from few millimeters to tiny filiform lesions (music box keratoderma)
Punctate Keratoderma Buscke-Fisher-Brauer syndrome
Most common palmoplantar keratoderma
Epidermolytic Keratoderma
AD disorder due to defects in Keratin 9 presents in childhood as diffuse PPK with sharp, livid transition to normal skin at edge of palms and soles, in severe cases there’s blistering and fissuring
Epidermolytic Keratoderma
Restricted to palmoplantar skin due to defect in Keratin 1
Nonepidermolytic Palmoplantar Keratoderma
Due to mutation in Keratin 16 and may complicate PPK on feet or occur in isolation; Early onset leads to disability as to become wheelchair bound; Associated with nail dystrophy and mucosal features
Focal PPK
Painful focal PPK is seen in
Tyrosinemia type II
AD inherited distinct variant of focal PPK with prominent linear involvement of the volar surfaces of the digits with happloinsufficiency of desmoglein 1, sometimes desmoplakin 1 and mutations in keratin 1
Striate PPK
Variant of Vohwinkel syndrome characterized by a honeycomb pattern and transgredient keratoderma leading to circumferential digital involvement, cicatrizing bands and sometimes autoamputation; with generalized ichthyosis and generalized desquamation
Loricrin keratoderma Camisa syndrome
AD disorder with diffuse PPK affecting the palmar skin associated with sclerodactyly, brachydactyly and cutaneous erythema and atrophy.
Huriez syndrome
Rare AR disorder with waxy to ivory yellow transgredient hyperkeratosis which is inflamed and macerated with livid margin. With circumferential sclerosing and cicatrizing lesions of the digits.
Mal de Meleda
Spectrum of dominantly inherited disorders associated with painful focal PPK and hypertrophic dystrophy of nail
Pachyonychia congenita
PC type associated with follicular keratoses, oral leukokeratosis and hoarseness
Pachyonychia congenita-1
Rarer PC type associated with multiple pilosebaceous cysts, teeth present at birth and hair changes such as protuberant eyebrows. With extensive and infected cysts that can present as hidradenitis suppurativa.
Pachyonychia congenita-2
Spectrum of AR ectodermal dysplasia with abnormal nails, oligodontia with abnormal teeth and hypotrichosis. Also assoc with erythematous facial lesions, atrophic lingual papillae and benign adnexal tumors (apocrine hydrocystoma)
Odonto-onycho-dermal dysplasia (Schopf-Schultz-Passarge syndrome
AD mutilating palmoplantar keratoderma with perioroficial plaques with diffuse, sharply demarcated and progressive keratoderma of palms and soles causing flexion deformities, constrictions, autoamputation and obliteration of digits. Usually manifests within first 6 months.
Olmstead syndrome
PPK with absent dermatoglyphics, reticulate pigmentary abnormalities, hypohydrosis, and other ectodermal defects
Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis
PPK in Dowling-Meara of EBS due to mutation on FERMT1
Kindler syndrome
Rare AD with thick yellow focal hyperkeratosis most prominent on pressure sites with oral leukoplakia with personal or family history of esophageal cancer
Howel-Evans syndrome
Diffuse PPK and fissure hyperkeratosis with trangredient erythema and periodontitis; scaly psoriasiform lesions over knees, elbows and interphalangeal joints
Papillon-Lefevre syndrome
More severe and extensive than Papillon-Lefevre syndrome with arachnodactyly, acroosteolysis, atrophic nails and pes planus
Haim-Munk syndrome
AD disorder with periodontitis, acro-osteolysis and psoriasiform lesions with focal or reticular keratoderma and progressive scarring alopecia
HOPP syndrome
HOPP syndrome
Hypotrichosis (Acro-osteolysis) Onychogryphosis Palmoplantar keratoderma Periodontitis
AR disorder with diffuse gray-yellow fissuring but nonepidermolytic keratoderma, wooly hair, and arrhythmogenic right ventricular cardiomyopathy causing heart failure and sudden death
Naxos disease
Striate keratoderma, wooly hair and dilated left ventricular cardiomyopathy with mutations in the desmoplakin gene
Carvajal-Huerta syndrome
Honeycomb patterned keratoderma, starfish acral keratoses, constricting bands, autoamputation and impaired hearing
Vohwinkel syndrome
AR syndromes with keratoderma and combination of neuropathy and mental retardation
MEDNIK syndrome CEDNIK syndrome
Very rare AR disorder due to deficiency in tyrosine aminotransferase leading to accumulation of tyrosine, phenolic acid metabolites presenting with painful focal palmoplantar hyperkeratosis, photophobia and corneal erosions
Tyrosinemia type II
Gene: Darier Disease
ATP2A2
Gene: Hailey-Hailey Disease
ATP2C1
Suprabasal cleft of the epidermis with acantholytic cells rounded eosinophilic in the epidermis (corps ronds) and flattened parakeratotic cells in the horny layer(grains)
Darier Disease
Discrete greasy yellowish-borwn keratotic papules with predilection for seborrheic areas, foul-smelling and nail changes (first sign of disease)
Darier Disease
Variant of Darier Disease which presents at birth or early childhood with asymptomatic, skin-colored flat-topped warty papules distributed symmetrically on the dorsum of hands and feet
Acrokeratosis Verruciformis or Acral Darier Disease
Presents between 2nd-4th decades with crusted weeping erosions, vesicopustules, expanding annular plaques with predilection for sites of friction
Hailey-Hailey Disease
Acquired condition common in fair-skinned males >40 years which presents with itchy rash on sun-damaged skin of the trunk with intense itch out of proportion
Grover Disease
Extensive partial loss of intercellular contacts within the epidermis produces the appearance of “dilapidated brick wall”
Hailey-Hailey Disease
