Dermatopathia pigmentosa reticularis
| Classification according to ICD-10 | |
|---|---|
| Q82.4 | Ectodermal dysplasia (anhidrotic) |
| ICD-10 online (WHO version 2019) | |
The Dermatopathia pigmentosa reticularis is one of the very rare congenital diseases in the form of circle of ectodermal dysplasia with the features of a reticulated hyperpigmentation , alopecia and nail dystrophy . In addition, vein dermatoglyphia , disorders of sweat production ( hypohidrosis or hyperhidrosis ) and cornification disorder ( hyperkeratosis ) of the palms of the hands and feet can occur.
Synonyms are: Latin dermatopathia pigmentosa reticularis hyperkeratotica et mutilans; dermatopathia pigmentosa reticularis hypohidotica et atrophica; English dermatopathic pigmentosa reticularis
The disease was first described in 1958 by H. Hauss and H. Oberste-Lehn .
distribution
So far only a few patients have been described. The inheritance is autosomal dominant .
root cause
The disease is based on mutations in the KRT14 gene on chromosome 17 at location 17q21.2, which codes for keratin .
Differential diagnosis
Different types of other allelic diseases due to mutations in the KRT14 gene, such as Naegeli syndrome and epidermolysis bullosa simplex, must be distinguished .
literature
- V. Shanker, M. Gupta: Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder. In: Indian dermatology online journal. Vol. 4, No. 1, January 2013, pp. 40-42, doi: 10.4103 / 2229-5178.105470 , PMID 23440032 , PMC 3573452 (free full text).
- O. Dereure: Syndrome de Naegeli-Franceschetti-Jadassohn et dermatopathie pigmentaire réticulée. Deux dysplasies ectodermiques alléliques liées à des mutations dominantes du gène codant pour la kératine 14. In: Annales de Dermatologie et de Vénéréologie . Vol. 134, No. 6-7, 2007 Jun.-Jul., P. 595, PMID 17657198 .
- TS Bu, YK Kim, KU Whang: A case of dermatopathia pigmentosa reticularis. In: The Journal of Dermatology . Vol. 24, No. 4, April 1997, pp. 266-269, PMID 9164071 .
Web links
Individual evidence
- ↑ a b Dermatopathia pigmentosa reticularis. In: Online Mendelian Inheritance in Man . (English)
- ^ WL Heimer, G. Brauner, WD James: Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. In: Journal of the American Academy of Dermatology . Vol. 26, No. 2 Pt 2, February 1992, pp. 298-301, PMID 1303619 .
- ↑ Dermatopathia pigmentosa reticularis. In: Orphanet (Rare Disease Database).
- ^ H. Hauss, H. Oberste-Lehn: Dermatopathia pigmentosa reticularis. In: Dermatologische Wochenschrift. Vol. 38, 1958, p. 1337.
- ↑ OMIM KRT14
