Sporadic Bazex–Dupré–Christol-like Syndrome: Early Onset Basal Cell Carcinoma, Hypohidrosis, Hypotrichosis, and Prominent Milia

Glaessl, Alexander; Hohenlautner, Ulrich; Landthaler, Míchael; Vogt, Thomas

doi:10.1046/j.1524-4725.2000.99146.x

Cited by 22 publications

(33 citation statements)

References 8 publications

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“…[58][59][60][61][62] In BDCS, milia typically arise during infancy or early childhood, often within the first weeks or months of life, and may be the presenting sign of the disease. 61,62 Milia are especially prominent on the face, limbs, trunk, axillae, and groin and may improve significantly at puberty.…”

Section: Bazex-dupre-christol Syndrome (Online Mendelian Inheritance mentioning

confidence: 99%

Milia: A review and classification

Berk

Bayliss

2008

Journal of the American Academy of Dermatology

111

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Section: Bazex-dupre-christol Syndrome (Online Mendelian Inheritance mentioning

confidence: 99%

Milia: A review and classification

Berk

Bayliss

2008

Journal of the American Academy of Dermatology

111

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“…Missense and nonsense mutations in the BCS1L gene are attributed to pili torti in Bjornstad syndrome . Associations include ectodermal abnormalities, Bjornstad syndrome, Bazed–Dupre–Christol syndrome , Laron syndrome , citrullinemia , Menke's disease , biotin deficiency, and mitochondrial defects . The disease may also be secondary to anorexia nervosa or oral retinoid therapy .…”

Section: Hair Shaft Disorders With Fragilitymentioning

confidence: 99%

Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I

Singh

Miteva

2016

Pediatric Dermatology

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Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective was to review the literature regarding the prognosis and treatment options of hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in the English language related to the prognosis and management of hair shaft disorders. Data were extracted from 96 articles that met search criteria. Findings were limited to case reports and small case series, as no studies were found. Disorders that improve in childhood include pili torti, trichorrhexis invaginata, wooly hair, and pili trianguli et canaliculi. Others, such as trichorrhexis nodosa, monilethrix, pili annulati, and pili bifurcati improve with minoxidil. Oral retinoids have improved hair abnormalities in trichorrhexis invaginata and monilethrix. There is no specific treatment for congenital hair shaft abnormalities. Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. Practices for gentle care include no brushing, backcombing, chemical products, tight braids, heat exposure, or mechanical grooming. Any inherited or congenital disorder requires genetic counseling as part of management.

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“…56 It is an X linked dominant disease characterised by early onset basal cell carcinomas associated with congenital hypotrichosis (sparse hair) and follicular atrophoderma (ice pick depressions on the skin). 56 Follicular atrophoderma is most often observed on the dorsa of the hands and feet, on the face, and on the extensor surface of the elbows and knees. Hypotrichosis is a typical feature of the syndrome and is caused by hair shaft abnormalities such as pili torti and trichorrhexis nodosa.…”

Section: Bazex Syndromementioning

confidence: 99%