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Familial multiple trichoepithelioma
2 OMIM references -
1 associated gene
20 connected diseases
6 signs/symptoms
Disease Type of connection
Familial cylindromatosis
Hereditary nonpolyposis colon cancer
Amyotrophic lateral sclerosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Lissencephaly due to TUBA1A mutation
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Herpetic encephalitis
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Syndromic multisystem autoimmune disease due to Itch deficiency
Constitutional mismatch repair deficiency syndrome
Non-polyposis Turcot syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Cowden syndrome
Proteus syndrome
Familial episodic pain syndrome with predominantly upper body involvement
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C536552
Gene symbol UniProt reference OMIM reference
CYLD Q9NQC7605018
Very frequent
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Skin tumors / lumps / epidermal cysts
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Telangiectasiae of the skin

Occasional
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)