Mutilating keratoderma(VOWNKL)

MedGen UID:: 78579
•Concept ID:: C0265964
•: Congenital Abnormality

Synonyms:	Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Keratoderma hereditarium mutilans; Vohwinkel Syndrome; VOWNKL
SNOMED CT:	Vohwinkel's mutilating keratoderma (24559001); Mutilating keratoderma (24559001); Keratoderma hereditarium mutilans (24559001); Mutilating keratoderma of Vohwinkel (24559001); Vohwinkel syndrome (24559001)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GJB2 (13q12.11)

Monarch Initiative:	MONDO:0007422
OMIM®:	124500
Orphanet:	ORPHA494

Definition

Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by Maestrini et al., 1999) A variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis (604117), is caused by mutation in the gene for loricrin (LOR; 152445) on chromosome 1q21. A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; 614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13.2. [from OMIM]

Additional description

From MedlinePlus Genetics
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.

In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss. https://medlineplus.gov/genetics/condition/vohwinkel-syndrome

Clinical features

From HPO

Autoamputation of digits

MedGen UID:: 343770
•Concept ID:: C1852289
•: Finding

The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.

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Honeycomb palmoplantar hyperkeratosis

MedGen UID:: 1787619
•Concept ID:: C5539406
•: Disease or Syndrome

Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.

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Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Knuckle pads

MedGen UID:: 78103
•Concept ID:: C0264000
•: Disease or Syndrome

Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'

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Amniotic constriction ring

MedGen UID:: 315953
•Concept ID:: C1527388
•: Congenital Abnormality

Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.

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Abnormality of limbs
- Autoamputation of digits
- Honeycomb palmoplantar hyperkeratosis
Abnormality of prenatal development or birth
- Amniotic constriction ring
Abnormality of the integument
- Knuckle pads
Ear malformation
- Hearing impairment

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMutilating keratoderma

Autosomal dominant diffuse mutilating palmoplantar keratoderma
- Mutilating keratoderma

Follow this link to review classifications for Mutilating keratoderma in Orphanet.

Recent clinical studies

Etiology

Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.

Matsumoto K, Muto M, Seki S, Saida T, Horiuchi N, Takahashi H, Ishida-Yamamoto A, Iizuka H
Br J Dermatol 2001 Oct;145(4):657-60. doi: 10.1046/j.1365-2133.2001.04412.x. PMID: 11703298

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Diagnosis

Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.

Matsumoto K, Muto M, Seki S, Saida T, Horiuchi N, Takahashi H, Ishida-Yamamoto A, Iizuka H
Br J Dermatol 2001 Oct;145(4):657-60. doi: 10.1046/j.1365-2133.2001.04412.x. PMID: 11703298

Vohwinkel's syndrome in three generations.

Solis RR, Diven DG, Trizna Z
J Am Acad Dermatol 2001 Feb;44(2 Suppl):376-8. doi: 10.1067/mjd.2001.106348. PMID: 11174420

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