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- W1574873368 abstract "Funding sources: M.A.M.v.S. is supported by the GROW School for Oncology and Developmental Biology and the Dutch Cancer Foundation KWF grant UM2009‐4352. Conflicts of interest: none declared. F.A. and L.J.M.T.P. contributed equally to this manuscript. Madam, Bazex–Dupré–Christol syndrome (BDCS) (OMIM 301845) is a hereditary tumour disorder that was first recognized in 1964 by Bazex et al.1 The disease is characterized by a triad of congenital hypotrichosis; early development of basal cell carcinomas (BCCs) from the first decade onwards; and follicular atrophoderma, most frequently localized on the dorsa of the hands and feet, extensor surfaces of the elbows and knees, and the face. Follicular atrophoderma presents as follicular funnels (so‐called ‘ice‐pick marks’) due to deep and lax follicular ostia.2 Further symptoms described in patients with BDCS comprise disseminated milia, hyperpigmentation of the forehead, localized hypohidrosis, and hair shaft abnormalities.3, 4 The diagnosis of this rare genodermatosis can be difficult because the clinical symptoms can develop at different ages, with intra‐ and interfamilial phenotypic variation.5 Usually, hypotrichosis is the earliest sign.6 Consequently, the disease has to be differentiated from other genetic disorders manifesting with congenital or early‐onset hair loss such as hypotrichosis simplex and hypohidrotic ectodermal dysplasia.7 Further differential diagnoses of BDCS on the one hand include hereditary tumour syndromes associated with early onset of BCCs such as Gorlin syndrome (OMIM 109400) and Rombo syndrome (OMIM 180730), and on the other hand rare ectodermal dysplasias with proneness to skin tumour development such as, for example, generalized basaloid follicular hamartoma syndrome (OMIM 605827), odonto‐onycho‐dermal dysplasia (OMIM 257980) and Schöpf–Schulz–Passarge syndrome (OMIM 224750).8" @default.
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- W1574873368 date "2011-06-24" @default.
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- W1574873368 title "Linkage refinement of Bazex-Dupré-Christol syndrome to an 11·4-Mb interval on chromosome Xq25-27.1" @default.
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- W1574873368 doi "https://doi.org/10.1111/j.1365-2133.2011.10219.x" @default.
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