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Follicular atrophoderma and basal cell epitheliomata
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Follicular atrophoderma and basal cell epitheliomata

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Contributors: Tyler Werbel, Susan Burgin MD
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Synopsis

Follicular atrophoderma and basal cell epitheliomata, also known as Bazex-Dupré-Christol syndrome (BDCS), is an exceedingly rare genodermatosis characterized by the triad of basal cell carcinoma (BCC), follicular atrophoderma, and hypotrichosis. Since it was first described in 1964, there have been fewer than 200 cases reported. BDCS demonstrates no predilection for sex, and most cases have occurred in patients of European descent. It is an X-linked dominant disorder caused by mutations in an unknown gene on an 11.4 Mb interval on chromosome Xq25-27.1. Two sporadic cases have also been documented in the literature. The condition is hypothesized to be a disorder of the hair follicle.

Most BCCs manifest during the second and third decade of life, but onset in the first decade has been reported. Lesions are typically localized to sun-exposed areas, particularly the face, and follow an aggressive course. Relapses are common.

Follicular atrophoderma occurs due to poor follicle unit development with subsequent dilatation and deepening of the follicular ostia. It may either be present at birth or it may develop early in life and typically manifests as follicularly based dells devoid of hair.

Hypotrichosis is typically congenital, occurs in 85% of cases, and improves with age. Involvement is usually widespread, but it can also be limited to the scalp, eyebrows, and eyelashes. Hair shaft abnormalities, including pili bifurcati, pili torti, and trichorrhexis nodosa, have also been reported.

Other less common manifestations of BDCS include milia, hypohidrosis, facial hyperpigmentation, and trichoepitheliomas.

For more information, see OMIM.

Codes

ICD10CM:
L73.8 – Other specified follicular disorders

SNOMEDCT:
254820002 – Follicular atrophoderma and basal cell epitheliomata

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Rombo syndrome
  • Basal cell nevus syndrome (Gorlin syndrome)
  • Schöpf-Schulz-Passarge syndrome
  • Generalized basaloid follicular hamartoma
  • Oley syndrome
  • X-linked dominant chondrodysplasia punctata

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 10/09/2018
Last Updated: 10/31/2018
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Follicular atrophoderma and basal cell epitheliomata
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Follicular atrophoderma and basal cell epitheliomata
Copyright © 2019 VisualDx®. All rights reserved.