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Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Keratoderma hereditarium mutilans

1 OMIM reference -
1 associated gene
17 signs/symptoms

Limited cutaneous systemic sclerosis

Keratoderma hereditarium mutilans

CAV1	(UniProt - OMIM)		GJB2	(UniProt - OMIM)
CCR6	(UniProt - OMIM)
CTGF	(UniProt - OMIM)
HLA-DRB1	(UniProt - OMIM)
IRF5	(UniProt - OMIM)
KIAA0319L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CAV1	(0.84)	GJB2

Citations in the biomedical literature:

Limited cutaneous systemic sclerosis		Keratoderma hereditarium mutilans
	Synonym(s): - Limited cutaneous systemic scleroderma		Synonym(s): - Mutilating keratoderma of Vohwinkel - Mutilating keratoderma plus deafness - PPK mutilans and deafness - Vohwinkel syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Limited cutaneous systemic sclerosis		Keratoderma hereditarium mutilans
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Dry / squaly skin / exfoliation - Irregular / patchy skin hypopigmentation Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin Occasional - Claw hand / retracted fingers - Claw toes / retracted toes - Lung fibrosis - Musculo-tendinous retractions - Pulmonary hypertension		Very frequent - Anomalies of cartilages, joints and periarticular tissue - Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Sensorineural deafness / hearing loss Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism Occasional - Alopecia - Anomalies of spine, vertebrae and pelvis - Auto-aggressivity / auto-mutilation - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dysplastic / thick / grooved toenails - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Ichthyosis / ichthyosiform dermatitis - Nails anomalies - Osteolysis / osteoclasia / bone destruction / erosions