48 - Inherited Palmoplantar Keratodermas Flashcards
Most common form of diffuse keratoderma
Epidermolytic palmoplantar keratoderma
Gene mutation: epidermolytic palmoplantar keratoderma
KRT9 (most cases)
KRT1 (minority of cases)
Gene mutation: nonepidermolytic palmoplantar keratoderma Unna-Thost type
KRT1
Diffuse nonepidermolytic palmoplantar keratoderma may be observed in
Greither syndrome
PPK Bothnia type
Gene mutation: Greither syndrome
KRT1
Gene mutation: PPK Bothnia type
AQP5
Manifests with a white spongy appearance of the palms and soles upon exposure to water
PPK Bothnia type
Form of autosomal recessive, progressive, diffuse, mutilating PPK with transgrediens
Mal de Meleda
Gene mutation: Mal de Meleda
SLURP1
Most common type of PPK in the Asian population
Nagashima-type PPK
Diffuse, transgrediens, nonprogressive, nonmulitating PPK
Palmoplantar skin assumes a typical whitish spongy appearance after water immersion
Nagashima-type PPK
Gene mutation: Nagashima-type PPK
SERPIN7
Diffuse mutilating PPK with periorificial keratotic plaques
Olmsted syndrome
Gene mutation: Olmsted syndrome autosomal dominant or autosomal recessive inheritance
TRPV3
Gene mutation: Olmsted syndrome X-linked recessive inheritance
MBTPS2
Genedermatoses featuring PPK and hearing impairment
Caused by heterozygous mutations in the gene GJB2 encoding connexin 26
Vohwinkel syndrome
Keratosis-ichthyosis-deafness syndrome
Bart-Pumphrey syndrome
PPK with deafness syndrome
Mutilating honeycomb-like PPK and starfish-shaped keratotic plaques
Vohwinkel syndrome
Erythrokeratoderma, grainy PPK, abnormal ectodermal features, progressive keratitis, and recurrent infections
Keratosis-ichthyosis-deafness syndrome
Honeycomb-like PPK
Knuckle pads
Leukoncychia
Bart-Pumphrey syndrome
Ectodermal dysplasia associated with diffuse PPK and nail and hair abnormalities
Caused by heterozygous mutations in GJB6 encoding connexin 30
Hidrotic ectodermal dysplasia
Hidrotic ectodermal dysplasia also known as
Clouston syndrome
Diffuse PPK, scleroatrophy, sclerodactyly, and occurrence of squamous cells carcinomas within atrophic skin
Autosomal dominant inherited trait with unknown etiology
Huriez syndrome
Diffuse PPK with transgrediens and severe progressive periodontitis
Papillon-Lefevre syndrome
Gene mutation and protein: Papillon-Lefevre syndrome
CTSC
Cathepsin C
Cardiocutaneous syndromes featuring PPK, woolly hair, and cardiomyopathy
Naxos disease
Carvajal syndrome
Gene mutation and protein: Naxos diseaes
JUP
Plakoglobin
Gene mutation and protein: Carvajal syndrome
DSP
Desmoplakin
Gene mutation and protein: Carvajal syndrome
DSP
Desmoplakin
Diffuse PPK
Woolly hair
Right ventriculopathy
Naxos disease
Striate PPK
Woolly hair
Left ventriculopathy
Carvajal syndrome
Gene mutation: striate PPK
Desmoglein 1
Desmolakin
Keratin 1 (lesser degree)
Gene mutation and protein: pachyonychia congenita
One of five keratin genes KRTA6A - keratin 6a KRT6B - keratin 6b KRT6C - keratin 6c KRT16 - keratin 16 KRT17 - keratin 17
Focal painful PPK
Thick dystrophic nails with a characteristic appearance
Associated features such as leukokeratosis, pilosebaceous cysts, and natal teeth
Pachyonychia congenita
Focal PPK
Mucosal (particularly esophageal) SCC with associated findings of follicular hypekeratosis and oral leukokeratosis
Autosomal dominant disorder
Howel-Evans syndrome
Gene mutation and protein: Howel-Evans syndrome
RHBDF2
iRhom2
Painful focal PPK
Bilateral keratitis
Mental retardation
Autosomal recessive disease
Richner-Hanhart syndrome
Gene mutation and protein: Richner-Hanhart sydnrome
TAT
Tyrosine aminotransferase
Multiple, painful, yellow-brown hyperkeratotic papules on the palms and soles that commonly appear during the first or second decades of life
Punctate PPK type 1
Gene mutation and protein: Punctate PPK type 1
One of two genes
AAGAB - p34
COL14A1 - collagen type XIV alpha 1
Skin-colored to yellow asymptomatic keratotic spines with histopathologic findings resembling cornoid lamella of porokeratosis
Punctate PPK type 2
Also known as punctate PPK type 3
Acrokeratoelastoidosis of Costa
Also known as punctate PPK type 3
Acrokeratoelastoidosis of Costa
Round to oval, white-yellow translucents papules with predilection to the thenar and hypothenar areas and pressure points with histopathologic findings of decreased elastic tissue and fragmented elastic fibers
Punctate PPK type 3
Punctate PPK
Hypopigmentated macules
Possible internal organ calcifications
Cole disease
Gene mutation: Cole disease
ENPP1
Extension of hyperkeratosis onto the dorsal aspects of the fingers, toes, hands, feet, and flexor aspects of the wrists and heels
Transgrediens
Constricting bands around digits
Pseudoainhum