Palmoplantar keratoderma-deafness syndrome

MedGen UID:: 332030
•Concept ID:: C1835672
•: Disease or Syndrome

Synonyms:	Diffuse palmoplantar keratoderma with deafness (subtype); Focal palmoplantar keratoderma with sensorineural deafness (subtype); Hereditary palmoplantar keratoderma with deafness (subtype); Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; Palmoplantar keratoderma and sensorineural deafness
SNOMED CT:	Palmoplantar keratoderma with deafness syndrome (722203001)
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. Mitochondrial inheritance MedGen UID: 165802 •Concept ID: C0887941 • Genetic Function Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). Autosomal dominant inheritance (Orphanet) Mitochondrial inheritance (Orphanet)

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

Monarch Initiative:	MONDO:0007852
OMIM®:	148350
Orphanet:	ORPHA2202

Definition

Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.

The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss. [from MedlinePlus Genetics]

Clinical features

From HPO

Palmoplantar keratosis

MedGen UID:: 44017
•Concept ID:: C0022596
•: Disease or Syndrome

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.

See: Feature record | Search on this feature

Hearing impairment

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

A decreased magnitude of the sensory perception of sound.

See: Feature record | Search on this feature

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Abnormality of limbs
- Palmoplantar keratosis
Ear malformation
- Hearing impairment

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPalmoplantar keratoderma-deafness syndrome

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
- Palmoplantar keratoderma-deafness syndrome

Follow this link to review classifications for Palmoplantar keratoderma-deafness syndrome in Orphanet.

Recent clinical studies

Diagnosis

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P
J Invest Dermatol 2017 Apr;137(4):845-854. Epub 2016 Dec 23 doi: 10.1016/j.jid.2016.12.010. PMID: 28017832 Free PMC Article

Palmoplantar papules and hyperkeratosis in a deaf man.

Taylor SL, Kwatra SG, McMichael AJ
Skinmed 2014 Mar-Apr;12(2):107-9. PMID: 24933850

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