Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma

General Information (adopted from Orphanet):

Synonyms, Signs: Palmoplantar hyperkeratosis - XX sex reversal - predisposition to squamous cell carcinoma
Number of Symptoms 1
OrphanetNr: 85112
OMIM Id: 610644
ICD-10: Q56.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Syndrome with 46,XX disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Guerriero et al. (2000) reported a 60-year-old man with familial scleroatrophic syndrome of Huriez (181600) who had developed squamous cell carcinomas on the affected skin of the right palm. Immunohistochemical analysis showed a marked reduction in the number ...
Molecular genetics OMIM Parma et al. (2006) identified a homozygous single-nucleotide insertion in R-spondin-1 (RSPO1; 609595.0001), the 90th gene tested, in the affected members of the family described by Micali et al. (2005). Proof that mutations in RSPO1 were responsible for ...