유전성 수장족저각화증
손바닥과 발바닥이 유전적으로 두꺼워지는 질환으로, 선천성 조갑비후증, 메다 병(mal de Meleda), 나가시마형 및 보스니아형 각화증, 각화증-어린선-난청 증후군, 그리고 CTSC 관련 파필론-르페브르 증후군과 하임-뭉크 증후군이 포함됩니다.
진단이 달라지는 점
진단 결과는 발 관리와 통증 관리에 도움이 됩니다. CTSC 관련 유형의 경우 조기 치과 치료로 치아를 보호할 수 있으며, GJB2 관련 유형은 청력 검사를 받아 보시는 것이 좋습니다.
분석 유전자
다른 명칭
hereditary keratosis palmoplantaris; hereditary palmoplantar hyperkeratosis; hereditary palmoplantar keratosis; hereditary PPK
관련 하위 유형 80개 포함 ↓하위 유형 숨기기 ↑
- 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
