Striate / Focal Palmoplantar Keratoderma
- Autosomal, semi-dominant inheritance
- 3 gene mutations characterize the 3 types
- Desmoglein 1
- Desmoplakin
- Keratin 1
- Occasional diffuse palmoplantar keratoderma with desmoglein 1 gene mutation
- Desmoglein 1 (biallelic), desmoplakin (heterozygous) gene mutations can produce Severe dermatitis, Multiple allergies, Metabolic wasting syndrome
- Onset in adolescence / early adulthood
- Abnormal desmosome activity
- Linear keratotic palmar / flexor digits bands, “island-like” plantar pressure point hyperkeratosis
- Worsen with mechanical stress
- Keratin 6c / 16 gene mutations lead to focal areata non-epidermolytic palmoplantar keratoderma with minimal nail dystrophy
Pathology in type 1 and 2
- Orthohyperkeratosis, increased intercellular distancing, suprabasal keratinocyte dehiscence
- Also seen in Carvajal syndrome, suprabasal epidermolysis bullosa simplex
- Type 1- smaller desmosomes
- Type 2 – increased perinuclear keratin filaments
- Oral acitretin
- Keratolytics