Bazex-Dupre-Christol syndrome

Summary

Bazex-Dupre-Christol syndrome (MONDO:0010535) is a disease. A subtype of skin disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• ClinVar variants: 1
• Phenotypes (HPO): 15

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		143	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0002208	Coarse hair	Very frequent (80-99%)
HP:0001056	Milia	Frequent (30-79%)
HP:0001482	Subcutaneous nodule	Frequent (30-79%)
HP:0002209	Sparse scalp hair	Frequent (30-79%)
HP:0002671	Basal cell carcinoma	Frequent (30-79%)
HP:0003777	Pili torti	Frequent (30-79%)
HP:0008070	Sparse hair	Frequent (30-79%)
HP:0009886	Trichorrhexis nodosa	Frequent (30-79%)
HP:0045075	Sparse eyebrow	Frequent (30-79%)
HP:0200102	Sparse or absent eyelashes	Frequent (30-79%)
HP:0000400	Macrotia	Occasional (5-29%)
HP:0000889	Abnormality of the clavicle	Occasional (5-29%)
HP:0001167	Abnormality of finger	Occasional (5-29%)
HP:0100720	Hypoplasia of the ear cartilage	Occasional (5-29%)
HP:0100777	Exostoses	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Bazex-Dupre-Christol syndrome
Mondo ID	MONDO:0010535
OMIM	301845
Orphanet	113, 166113
SNOMED CT	238640007, 254820002
UMLS	C0346104
MedGen	87539
GARD	0000838
Is cancer (heuristic)	no

Also known as: acrokeratosis of Bazex · acrokeratosis paraneoplastica · acrokeratosis paraneoplastica of Bazex · Bazex syndrome · Bazex syndrome, X-linked dominant · Bazex-Dupre-Christol syndrome · Bazex-Dupré-Christol syndrome · BDCS · BZX · follicular atrophoderma and basal cell carcinomas · follicular atrophoderma-basal cell carcinoma syndrome · follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of skin disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › Bazex-Dupre-Christol syndrome

Related subtypes (71): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, sunburn, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, erythematosquamous dermatosis, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, rosacea, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, vesiculobullous skin disease, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, nephrogenic systemic fibrosis, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, non-neoplastic nevus, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome

Subtypes (1): follicular atrophoderma-basal cell carcinoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4277363	Single allele		Pathogenic	criteria provided, single submitter

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.