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Mutilating keratoderma(KHM)

MedGen UID:
78579
Concept ID:
C0265964
Disease or Syndrome
Synonyms: Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Keratoderma hereditarium mutilans; KHM; Vohwinkel Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Vohwinkel's mutilating keratoderma (24559001); Mutilating keratoderma (24559001)
 
Gene: GJB2
Cytogenetic location: 13q12.11
OMIM®: 124500
Orphanet: ORPHA494

Definition

Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. 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. 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.
[from GHR]

Clinical features

Abnormality of the genital system
MedGen UID:
155422
Concept ID:
C0744356
Finding
Cleft palate
MedGen UID:
776579
Concept ID:
C2240378
Finding
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Self-injurious behavior
MedGen UID:
506521
Concept ID:
CN117607
Finding
Aggression towards oneself.
Osteolysis
MedGen UID:
505359
Concept ID:
CN002530
Finding
Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
Amniotic constriction ring
MedGen UID:
506316
Concept ID:
CN008633
Finding
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.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Honeycomb palmoplantar keratoderma
MedGen UID:
355609
Concept ID:
C1866032
Finding
Abnormality of the toenails
MedGen UID:
825598
Concept ID:
C3839753
Finding
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Autoamputation of digits
MedGen UID:
343770
Concept ID:
C1852289
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGMutilating keratoderma

Recent clinical studies

Etiology

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. PMID: 11703298
Reddy BS, Gupta SK
Int J Dermatol 1983 Nov;22(9):530-3. PMID: 6227573

Diagnosis

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. PMID: 11703298
Solis RR, Diven DG, Trizna Z
J Am Acad Dermatol 2001 Feb;44(2 Suppl):376-8. PMID: 11174420

Therapy

Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. PMID: 17344790
Bondeson ML, Nyström AM, Gunnarsson U, Vahlquist A
Acta Derm Venereol 2006;86(6):503-8. doi: 10.2340/00015555-0164. PMID: 17106596
Thappa DM, Sharma R, Kumar B, Radotra BD
Indian J Dermatol 1989 Mar;34(1):13-6. PMID: 2533930
Rivers JK, Duke EE, Justus DW
J Am Acad Dermatol 1985 Jul;13(1):43-9. PMID: 3161912
Sivayathorn A, Tongnak S
J Med Assoc Thai 1985 Oct;68(10):546-51. PMID: 2934494

Prognosis

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

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