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1 OMIM reference -
2 associated genes
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Cutaneous mastocytoma

1 associated gene
11 signs/symptoms

Piebaldism

Cutaneous mastocytoma

KIT	(UniProt - OMIM)		KIT	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)


COMMON GENES	KIT

Citations in the biomedical literature:

Piebaldism		Cutaneous mastocytoma
	Synonym(s): (no synonyms)		Synonym(s): - Cutaneous local mastocytoma - Multiple mastocytoma - Solitary mastocytoma

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare allergic disease - Rare hematologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: D016116		External references: No OMIM references 1 MeSH reference: D054705


COMMON SIGNS	- Macules

Piebaldism		Cutaneous mastocytoma
	Very frequent - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Irregular / in bands / reticular skin hyperpigmentation Occasional - Anomalies of mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Broad nasal root - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Microcephaly - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Synophris / synophrys		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Mastocytosis - Pruritus / itching - Subcutaneous nodules / lipomas / tumefaction / swelling - Urticaria - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Thick skin / pachydermia / orange skin Occasional - Acute abdominal pain / colic - Facial pain / cephalalgia / migraine - Hot flushes / sensation of cold