Welcome to PhenoDis

General Information (adopted from Orphanet):

Synonyms, Signs:	SCLEROATROPHIC AND KERATOTIC DERMATOSIS OF LIMBS TYS HRZ Palmoplantar hyperkeratosis-sclerodactyly syndrome Sclerotylosis huriez syndrome Scleroatrophic syndrome
Number of Symptoms	13
OrphanetNr:	384
OMIM Id:	181600
ICD-10:	Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant inheritance [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
-Rare genetic disease
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0008065)	Aplasia/Hypoplasia of the skin	Very frequent [Orphanet]	81 / 7739
2	(HPO:0001597)	Abnormality of the nail	Very frequent [Orphanet]	115 / 7739
3	(HPO:0000958)	Dry skin	Very frequent [Orphanet]	152 / 7739
4	(HPO:0100679)	Lack of skin elasticity	Very frequent [Orphanet]	29 / 7739
5	(HPO:0000962)	Hyperkeratosis	Very frequent [Orphanet]	216 / 7739
6	(HPO:0007597)	Congenital palmoplantar keratodermia		1 / 7739
7	(HPO:0001792)	Small nail		55 / 7739
8	(HPO:0008069)	Neoplasm of the skin	Occasional [Orphanet]	84 / 7739
9	(HPO:0002664)	Neoplasm		111 / 7739
10	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
11	(OMIM)	Stiff skin	Very frequent [Orphanet]	31 / 7739
12	(OMIM)	Frequent skin and bowel cancer		1 / 7739
13	(OMIM)	Atrophic fibrosis of limb skin		1 / 7739

Additional Information:

Clinical Description OMIM

Huriez et al. (1968) described a 'new' genodermatosis in 44 members of 3 French kindreds. The characteristics were atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratoderma of the palms and soles. Skin cancer ... Huriez et al. (1968) described a 'new' genodermatosis in 44 members of 3 French kindreds. The characteristics were atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratoderma of the palms and soles. Skin cancer and bowel cancer were frequent. Lambert et al. (1977) studied 3 cases in a family reported by Huriez et al. (1968); the family lived in Lille, France. Fischer (1978) reported a fourth family, living in Bourges, France, at a considerable distance from Lille. Mother and 2 daughters were affected. MN blood groups were consistent with linkage. The deceased maternal grandfather was also affected. The triad of manifestations was scleroatrophic lesions predominantly of the hands, hypoplastic nail changes, and palmoplantar keratoderma. Changes were present at birth. Delaporte et al. (1995) stated that since the initial description of the disease, 3 other families, and possibly a fourth, had been reported. They reassessed the clinical, pathologic, and genetic data in 114 members of one of the families originally described by Huriez et al. (1968), of whom 27 who were affected by the disorder were still alive. Squamous cell carcinomas (SCCs) had occurred in 3. One patient had 7 successive SCCs on different fingers, the first at the age of 35; he subsequently died from metastatic SCC at the age of 54. Lucker et al. (1997) described a mother and son with this form of palmoplantar keratoderma characterized by scleroatrophy, sclerodactyly, and nail anomalies. In the affected skin of the mother, 3 squamous cell carcinomas developed at a young age. Retinoid treatment was started prophylactically. Malignant degeneration of affected skin is a distinctive feature of the syndrome. A high mortality rate for this type of skin cancer has also been reported. Hamm et al. (1996) reported the first family with this syndrome from Germany. Immunohistochemical and ultrastructural studies of their index case revealed an absence of Langerhans cells in involved skin. The authors suggested that this might account for the tendency of scleroatrophic skin to undergo malignant change. Kavanagh et al. (1997) reported the first family from the U.K. with the scleroatrophic syndrome of Huriez. The proband was a 29-year-old nurse who, in addition to a worsening hand dermatitis, had hands small from birth with abnormal finger- and toenails that did not require cutting. There was notable absence of sweating on the extremities. A sister had died at the age of 22 years of metastatic squamous cell carcinoma that developed on scleroatrophic skin on the finger. An aunt also had an SCC excised at 45 years of age and later developed bowel carcinoma. The proband and other members of the family showed poikiloderma-like changes of the nose and telangiectases of the lips. Lee et al. (2000) pointed out that aggressive squamous cell carcinoma of the affected skin is a distinctive feature of this syndrome, occurring in approximately 15% of affected individuals. SCC in Huriez syndrome has an early onset, mostly in the third to fourth decade, and early metastasis formation (Hamm et al., 1996). Development of SCC in Huriez syndrome bears striking similarity to Marjolin ulcer, which refers to malignancies arising in chronic ulcers of the skin, scar tissue, and burn scars (Fleming et al., 1990). See 610644 for description of a disorder resembling Huriez syndrome, associated with squamous cell carcinoma but with SRY (480000)-negative female-to-male XX sex reversal, caused by mutation in the gene encoding R-spondin-1 (609595).

Palmoplantar keratoderma-sclerodactyly syndrome

General Information (adopted from Orphanet):

Prevalence, inheritance and age of onset:

Disease classification (adopted from Orphanet):

Symptom Information: Sort by abundance

Associated genes:

ClinVar (via SNiPA)

Additional Information:

Symptoms & Signs

	Field	Query
	Disease
	Symptom