Bazex Syndrome (BZX)

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OMIM® 57 301845 MESH via Orphanet 45 C537663 ICD10 via Orphanet 33 L98.8 UMLS via Orphanet 71 C0346104 C0406355

Orphanet 58 ORPHA113 ORPHA166113 ORPHA79459 MedGen 41 C0346104 SNOMED-CT via HPO 68 128334002 1338007 14411002 165397008 17170005 200766001 200775004 20741006 21119008 22486004 238736006 24079001 254626006 254679001 254683001 254701007 254829001 267038008 271737000 271767006 275265005 275480001 279333002 281104002 298181000 37719003 400096001 402599005 416189003 418290006 418363000 423666004 424492005 43116000 45004005 45342007 4830009 48610005 49430005 49765009 51697005 53602002 56558005 59393003 65068000 69056000 706885006 72129000 79654002 80400009 87065009 95325000 more UMLS 70 C0346104

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 113 Definition Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Epidemiology So far, 143 cases have been reported, mostly from France and Belgium. Clinical description The disease manifests during the neonatal period or during infancy. It is characterized by hypotrichosis, hypohidrosis, milia and basal cell carcinomas of early onset. Follicular atrophoderma is frequent and most common on the dorsum of the hands and feet, the extensor surfaces of the elbows and knees, and the face. Hypotrichosis affects the scalp and sometimes the eyebrows. The milia papules and basal cell carcinomas are located predominantly on the face. Basal cell carcinomas develop in 40% of patients, usually during the 2nd or 3rd decade of life. Additional common features include basal cell hamartomas, trichoepitheliomas and, in very rare cases, atopy, keratosis pilaris, ichthyosis, arachnodactyly with joint hyperlaxity, osteochondritis, deafness and learning difficulties. Etiology The gene has been mapped to the long arm of the X chromosome, within the Xq24-q27.1 region. UBE2A (Xq24), encoding a protein involved in repair of UV-damaged DNA, has been proposed as a candidate gene. Differential diagnosis The differential diagnosis should include Gorlin syndrome, which also leads to multiple basal cell carcinomas of early onset, and X-linked dominant chondrodysplasia punctata (see these terms) in which follicular atrophoderma may also be observed. Rombo syndrome and generalized basaloid follicular hamartoma syndrome (see these terms) should also be included in the differential diagnosis. Genetic counseling Transmission is X-linked dominant. Management and treatment Management involves photoprotection and early detection of basal cell carcinomas. Surgical intervention, and sometimes cryosurgery or topical imiquimod, are indicated for basal cell carcinomas. Radiotherapy is contraindicated.

MalaCards based summary : Bazex Syndrome, also known as follicular atrophoderma and basal cell carcinomas, is related to pili torti, early-onset and basal cell carcinoma 1. An important gene associated with Bazex Syndrome is BZX (Bazex Syndrome), and among its related pathways/superpathways are G-protein signaling_RhoA regulation pathway and Lung fibrosis. The drugs Trastuzumab and Pembrolizumab have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and breast, and related phenotypes are coarse hair and palmoplantar keratoderma

OMIM® : ⁵⁷ Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. (301845) (Updated 05-Apr-2021)

Wikipedia : ⁷³ Bazex-Dupré-Christol syndrome is a very rare condition inherited in an X-linked dominant fashion.... more...

Clinical features from OMIM®:

301845 (Updated 05-Apr-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization	GR00242-A-1	9.56	ACTRT1 FGF7
2	Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization	GR00242-A-2	9.56	ACTRT1 FGF7
3	Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation	GR00242-A-4	9.16	ACTRT1 FGF7
4	Decreased viability after sindbis virus (SIN) dsTE12Q infection	GR00242-A-3	8.62	ACTRT1 FGF7

Search NIH Clinical Center for Bazex Syndrome

Search GEO for disease gene expression data for Bazex Syndrome.