Keratoderma hereditarium mutilans

Classification according to ICD-10
Q82.8	Other specified congenital skin malformations
ICD-10 online (WHO version 2019)

The keratoderma hereditarium mutilans is a very rare genodermatosis ( congenital disease ) the main features massive hyperkeratosis (hyperkeratosis) on the palms and soles, mutilations and (not always) hearing loss to deafness .

Synonyms are: Vohwinkel syndrome; Palmoplantar hyperkeratosis type mutilans Vohwinkel; PPK mutilans; Nockemann syndrome; Latin Keratosis palmoplantaris mutilans; Keratosis palmoplantaris mutilans Vohwinkel; Keratoma hereditaria mutilans; Keratodermia palmo-plantaris mutilans Vohwinkel ; english mutilating keratoderma

The name refers to the author of the first description from 1929 by the German dermatologist Karl Hermann Vohwinkel and from 1961 by the German surgeon P. F. Nockemann .

distribution

The frequency is unknown; approximately 50 patients have been reported to date. The inheritance is autosomal dominant .

Causes and classification

Two forms can be distinguished:

• Classic shape

The disease are mutations in GJB2 - gene in chromosome 13 locus q12.11 based coding for connexin -26, a membrane protein coded. Mutations in this gene are also responsible for the keratitis-ichthyosis-deafness syndrome and the palmoplantar keratosis-deafness syndrome (PPK deafness syndrome).

• variant

There is no hearing loss here, but there is ichthyosis ; the mutation affects the LOR gene in chromosome 1 gene location q21, which codes for loricrin.

Mutations in this gene can also be found in erythrokeratodermia progressiva symmetrica .

Clinical manifestations

Clinical criteria are:

• Illness in early childhood
• Slow development of a diffuse palmo-plantar hyperkeratosis with hyperhidrosis , symmetrical arrangement and dimple-like depressions
• Reaching over to the hand, back of the foot, elbow and knee
• focal hyperkeratoses at stress points
• Over the years development of painless keratotic pores through to spontaneous amputations
• Inner ear hearing loss with secondary speech impairment

therapy

The treatment is directed against the cornification and formation of laces with systemic administration of retinoids such as acitretin and local treatment.

literature

• S. Dippold, F. Butsch, R. Schopf, A. Keilmann: Vohwinkel syndrome hearing loss and keratoses on the hand and foot. In: ENT , Volume 61, No. 7, July 2013, pp. 617-619, doi: 10.1007 / s00106-012-2607-x , PMID 23247752 .
• M. Sinha, SB Watson: Keratoderma hereditarium mutilans (Vohwinkel syndrome). In: The Journal of hand surgery, European volume , Volume 34, No. 2, April 2009, pp. 235-237, doi: 10.1177 / 1753193408098901 , PMID 19282408 .S. 

Web links

• emedicine.medscape

Individual evidence

1. ↑ ^{a b} 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 .
2. ↑ ^{a b c} Encyclopedia Dermatology
3. ↑ KH Vohwinkel: Keratoma hereditarium mutilans. In: Archives for Dermatology and Syphilis. 158, 1929, p. 354, doi: 10.1007 / bf01826619 .
4. ↑ PF Nockemann: Hereditary corneal thickening with cord furrows on fingers and toes and inner ear hearing loss. In: Medical World , Volume 2, 1961, pp. 1894-1900.
5. ↑ Keratoderma hereditarium mutilans. In: Orphanet (Rare Disease Database).
6. ^ Genetics Home Reference
7. ^ Vohwinkel syndrome.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ Palmoplantar Keratosis - hearing loss. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !