Dotted palmoplantar keratosis
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Hereditary palmoplantar keratosis |
| ICD-10 online (WHO version 2019) | |
The punctured palmoplantar keratosis , also called palmoplantar keratosis, isolated punctured ; PPK, isolated dotted ; English Isolated punctate palmoplantar keratoderma is a group of rare congenital diseases from the group of hyperkeratoses ( belonging to the keratoderma ) with the main characteristic of small teardrop-shaped cornification disorders.
classification
It is divided into the following types according to the underlying genetic changes:
- Type I palmoplantar keratosis, dotted, Type I , (synonyms: Keratosis palmoplantaris papulosa Buschke-Fischer-Brauer ; PALMOPLANTAR KERATODERMA, PUNCTATE TYPE I; PPKP1; KPPP1; KERATODERMIA PALMOPLANTARIS PAPULOSA; PALMOPLANTARIS PAPULOSA; AAGAB gene at location 15q23
- Type IA PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (Synonym: PPKP1A) AD Cytogenetic at locus 15q22-q23
- Type IB PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB (Synonym: PPKP1B), mutations at AD Cytogenetic location: 8q24.13-q24.21, Genomic coordinates (GRCh37): 8: 122,500,000-131,500,000
- Type II palmoplantar keratosis, dotted, type II , (synonyms: keratosis punctata palmaris et plantaris; PPKP2; PPPP; spiny keratoderma ) AD
- Type III palmoplantar hyperkeratosis, dotted, type III (synonym: PPKP3 without elastoidosis; acral focal hyperkeratosis , palmoplantar keratosis, dotted, type 3, without elastoidosis; acrokeratoelastoidosis lichenoides), mutations at locus 2p25-p12
Syndromal forms
There are also forms in the context of syndromes with additional changes.
- Schöpf-Schulz-Passarge syndrome consisting of: dotted palmoplantar keratosis - cystic eyelids - hypodontia - hypotrichosis 10664, autosomal recessive inheritance, mutations in the WNT10A gene at locus 1q35.
- Punctured palmoplantar keratosis with ankylosing spondylitis
- Punctured palmoplantar keratosis with facial sebum hyperplasia
- Punctured palmoplantar keratosis with spastic paralysis
- Punctured palmoplantar keratosis with lipomas
distribution
The frequency for type I is given as 1.17 per 100,000 or 1.2 per 100,000.
Inheritance is autosomal dominant in all forms .
Clinical manifestations
The changes usually do not occur before the age of 10, the age of onset is given as 10–70 years.
treatment
The treatment is symptomatic.
Individual evidence
- ↑ Altmeyer Online Encyclopedia Dermatology
- ↑ Rare disease with punctured palmoplantar keratosis as the main feature. In: Orphanet (Rare Disease Database).
- ↑ Palmoplantar keratosis, isolated dotted. In: Orphanet (Rare Disease Database).
- ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ Palmoplantar keratosis, dotted, type I. In: Orphanet (database for rare diseases).
- ↑ Altmeyer Online Encyclopedia Dermatology
- ↑ PPKP1. In: Online Mendelian Inheritance in Man . (English)
- ^ E. Pohler, M. Huber, SE Boonen, M. Zamiri, PA Gregersen, M. Sommerlund, M. Ramsing, D. Hohl, WH McLean, FJ Smith: New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. In: The British journal of dermatology. Vol. 171, No. 2, August 2014, pp. 433-436, doi: 10.1111 / bjd.12927 , PMID 24588319 , PMC 4282079 (free full text).
- ↑ PPKP1A. In: Online Mendelian Inheritance in Man . (English)
- ↑ PPKP1B. In: Online Mendelian Inheritance in Man . (English)
- ↑ Palmoplantar keratosis, dotted, type II. In: Orphanet (database for rare diseases).
- ↑ PPKP2. In: Online Mendelian Inheritance in Man . (English)
- ↑ Hyperkeratosis, acral focal. In: Orphanet (Rare Disease Database).
- ↑ PPKP3. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b c Medscape
- ↑ Schopf-Schulz-Passarge syndrome. In: Online Mendelian Inheritance in Man . (English)
- ^ Right Diagnosis
- ↑ a b Derma-net-online
