Conradi-Hünermann-Happle syndrome is a rare X-linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.Trp101Arg) of the EMP (emopamil binding protein) gene.
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| http://dx.doi.org/10.1002/ccr3.2213 | DOI Listing |
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Conradi-Hünermann-Happle syndrome is a rare genodermatosis affecting cholesterol metabolism caused by pathogenic variants in the emopamil binding protein (EBP) gene. It presents with skin, skeletal, and ophthalmological alterations. Cutaneous findings include hyperkeratotic lesions following Blaschko lines that subsequently improve leaving scarring alopecia and patches of atrophy.
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