Format

Send to:

Choose Destination

Links from PubMed

Keratoderma with scleroatrophy of the extremities(HRZ)

MedGen UID:
98360
Concept ID:
C0406767
Congenital Abnormality; Disease or Syndrome
Synonyms: Atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles; Huriez syndrome; Scleroatrophic and keratotic dermatosis of limbs; Sclerotylosis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
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.
SNOMED CT: Keratoderma with scleroatrophy of the extremities (239076000); Huriez syndrome (239076000)
 
OMIM®: 181600
Orphanet: ORPHA384

Clinical features

Neoplasm of the skin
MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
A tumor (abnormal growth of tissue) of the skin.
Neoplasm
MedGen UID:
227011
Concept ID:
C1306459
Finding
A malignant tumor at the original site of growth.
Neoplasm of the skin
MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
A tumor (abnormal growth of tissue) of the skin.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Lack of skin elasticity
MedGen UID:
107840
Concept ID:
C0558242
Finding
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Finding
Aplasia/Hypoplasia of the skin
MedGen UID:
870295
Concept ID:
C4024737
Finding
Congenital palmoplantar keratodermia
MedGen UID:
870392
Concept ID:
C4024837
Congenital Abnormality
Palmoplantar keratoderma
MedGen UID:
504675
Concept ID:
CN000920
Finding
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKeratoderma with scleroatrophy of the extremities
Follow this link to review classifications for Keratoderma with scleroatrophy of the extremities in Orphanet.

Recent clinical studies

Etiology

Delaporte E, N'guyen-Mailfer C, Janin A, Savary JB, Vasseur F, Feingold N, Piette F, Bergoend H
Br J Dermatol 1995 Sep;133(3):409-16. PMID: 8546996

Therapy

Delaporte E, N'guyen-Mailfer C, Janin A, Savary JB, Vasseur F, Feingold N, Piette F, Bergoend H
Br J Dermatol 1995 Sep;133(3):409-16. PMID: 8546996

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center