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Familial cylindromatosis

1 OMIM reference -
1 associated gene
20 connected diseases
5 signs/symptoms

Disease	Type of connection
Familial multiple trichoepithelioma
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): - Turban tumor syndrome

Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (ICD10): (no data available)

Epidemiological data: (no data available)		External references: 1 OMIM reference - 1 MeSH reference: C536611

Gene symbol	UniProt reference	OMIM reference
CYLD	Q9NQC7	605018

Very frequent

- Autosomal dominant inheritance
- Scalp cyst / giant nevus
- Skin tumors / lumps / epidermal cysts
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of the skin