Huriez syndrome
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Other specified congenital skin malformations |
| ICD-10 online (WHO version 2019) | |
The Huriez syndrome is a very rare hereditary palmoplantar ( congenital skin disease ) the main features diffuse induration and atrophy (Skleroatrophie) of the hands with a hardening of the skin of the fingers ( Sclerodactyly ), diffuse palmoplantar and nail dystrophy .
Synonyms are: palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Sclerotylosis
The name refers to the first author of the first description from 1963 by the French dermatologist Claude Huriez (1904–1984)
Spread and cause
The frequency is unknown; the inheritance is autosomal dominant . The disease is based on mutations at gene location 4q23.
Clinical manifestations
Clinical criteria are:
- Onset of abnormalities within the first years of life
- diffuse scleral atrophy of the hands, less noticeable on the feet
- extensive lamellar hyperkeratosis , especially at the pressure points
- Sclerodactyly
- Dry skin, hypohidrosis
- Telangiectasias on the face
- Nail hypoplasia
Differential diagnosis
Must be distinguished is the Systemic scleroderma .
literature
- P. Kharge, C. Fernendes, V. Jairath, M. Mohan, S. Chandra: Poikiloderma a varied presentation - Huriez syndrome. In: Indian dermatology online journal. Vol. 6, No. 1, 2015 Jan – Feb, pp. 27–30, doi: 10.4103 / 2229-5178.148929 , PMID 25657913 , PMC 4314883 (free full text).
- C. Huriez ,. Deminatti, P. Agache, M. Fau: A propos de 28 cas d'epidermolyse bulleuse dans 11 familles dont une famille etudiee du point de une genetique, sans mise en evidence de linkage. In: Bulletin de la Societe française de dermatologie et de syphiligraphie. Vol. 75, No. 6, 1968, pp. 750-755, PMID 5712981 .
- C. Huriez, M. Deminatti, P. Agache, M. Mennecier: Une genodysplasie non encore individualisee: la genodermatose sclero-atrophiante et keratodermique des extremites frequemment degenerative. In: La semaine des hôpitaux: organe fondé par l'Association d'enseignement médical des hôpitaux de Paris. Vol. 44, No. 8, February 1968, pp. 481-488, PMID 4298032 .
Individual evidence
- ↑ Palmoplantar Keratosis-Sclerodactyly Syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b Altmeyer Encyclopedia Dermatology
- ↑ Altmeyer Online Encyclopedia Dermatologie Huriez
- ↑ C. Huriez, P. Agache, F. Souillart et al .: Scléroatrophie familiale des extrémités avec dégénérescence cellulaires multiples. In: Bulletin de la Societe française de dermatologie et de syphiligraphie. Vol. 70, 1963, pp. 743-744.
- ↑ Huriez syndrome. In: Online Mendelian Inheritance in Man . (English)
