Erfelijke palmoplantaire keratodermie
Erfelijke verdikking van de handpalmen en voetzolen, waaronder pachyonychia congenita, mal de Meleda, keratodermie van het Nagashima-type en Bothnische keratodermie, het keratitis-ichthyosis-doofheidssyndroom, en de met CTSC samenhangende Papillon-Lefèvre- en Haim-Munk-syndromen.
Wat een diagnose verandert
Een diagnose helpt bij de verzorging van de voeten en de behandeling van pijn; bij de met CTSC samenhangende vormen beschermt vroege tandheelkundige behandeling de tanden, en bij de met GJB2 samenhangende vormen is een gehoorcontrole aan te raden.
Geanalyseerde genen
Ook bekend als
hereditary keratosis palmoplantaris; hereditary palmoplantar hyperkeratosis; hereditary palmoplantar keratosis; hereditary PPK
Bevat 80 gerelateerde subtypen ↓Subtypen verbergen ↑
- alopecia congenita keratosis palmoplantaris
- autosomal dominant keratitis-ichthyosis-hearing loss syndrome
- autosomal dominant palmoplantar keratoderma and congenital alopecia
- autosomal recessive palmoplantar keratoderma and congenital alopecia
- Bart-Pumphrey syndrome
- CEDNIK syndrome
- Clouston syndrome
- corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- Curly hair - acral keratoderma - caries syndrome
- dermatopathia pigmentosa reticularis
- diffuse nonepidermolytic palmoplantar keratoderma
- diffuse palmoplantar keratoderma
- diffuse palmoplantar keratoderma - acrocyanosis syndrome
- diffuse palmoplantar keratoderma with painful fissures
- epidermolytic palmoplantar keratoderma, 1
- erythrokeratodermia variabilis
- erythrokeratodermia variabilis et progressiva 1
- erythrokeratodermia variabilis et progressiva 2
- erythrokeratodermia variabilis et progressiva 3
- erythrokeratodermia variabilis et progressiva 4
- erythrokeratodermia variabilis et progressiva 5
- erythrokeratodermia variabilis et progressiva 6
- erythrokeratodermia variabilis et progressiva 7
- focal acral hyperkeratosis
- focal palmoplantar and gingival keratoderma
- focal palmoplantar keratoderma
- focal palmoplantar keratoderma with joint keratoses
- Haim-Munk syndrome
- hearing loss with skin disease
- hereditary painful callosities
- hereditary palmoplantar keratoderma, Gamborg-Nielsen type
- hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
- ichthyosiform erythroderma, corneal involvement, and hearing loss
- ichthyosis, hystrix-like, with hearing loss
- isolated focal non-epidermolytic palmoplantar keratoderma
- keratosis palmaris et plantaris-clinodactyly syndrome
- keratosis palmoplantaris striata 2
- keratosis palmoplantaris striata 3
- KID syndrome
- loricrin keratoderma
- mal de Meleda
- Naegeli-Franceschetti-Jadassohn syndrome
- nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
- odonto-onycho-dermal dysplasia
- Olmsted syndrome
- Olmsted syndrome 1
- Olmsted syndrome 2
- Olmsted syndrome, X-linked
- pachyonychia congenita
- pachyonychia congenita 1
- pachyonychia congenita 2
- pachyonychia congenita 3
- pachyonychia congenita 4
- palmoplantar keratoderma i, striate, focal, or diffuse
- palmoplantar keratoderma-deafness syndrome
- palmoplantar keratoderma-esophageal carcinoma syndrome
- palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
- palmoplantar keratoderma-sclerodactyly syndrome
- palmoplantar keratoderma-spastic paralysis syndrome
- palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- palmoplantar keratoderma, Bothnian type
- palmoplantar keratoderma, epidermolytic
- palmoplantar keratoderma, epidermolytic, 2
- palmoplantar keratoderma, Nagashima type
- palmoplantar keratoderma, nonepidermolytic, focal 1
- palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- palmoplantar keratoderma, punctate type 1A
- palmoplantar keratoderma, punctate type ib
- Papillon-Lefevre disease
- punctate palmoplantar keratoderma
- punctate palmoplantar keratoderma type 1
- punctate palmoplantar keratoderma type 2
- punctate palmoplantar keratoderma type III
- Schöpf-Schulz-Passarge syndrome
- skin fragility-woolly hair-palmoplantar keratoderma syndrome
- striate palmoplantar keratoderma
- transgrediens et progrediens palmoplantar keratoderma
- tyrosinemia type II
- wooly hair-palmoplantar keratoderma syndrome
