Ichthyosiform Nevus in a 22-Year-Old Woman

February 2010 in “ Journal of The American Academy of Dermatology ”

ichthyosiform nevus congenital hemidysplasia CHILD syndrome X-linked dominant disorder hyperkeratosis parakeratosis acanthosis skin abnormalities NEVIL

TLDR A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.

In the 2010 case study of a 22-year-old Hispanic woman with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, an X-linked dominant disorder with fewer than 50 cases described at the time, the patient presented with a linear verrucous plaque with erythematous-yellowish scales on her right hand, forearm, and elbow. A biopsy revealed hyperkeratosis, parakeratosis, acanthosis, and other skin abnormalities. The study discussed the terminology of CHILD nevus and NEVIL, suggesting they may be the same entity, with NEVIL being an incomplete form of CHILD syndrome. The importance of diagnosing mild cases for genetic counseling was emphasized. No commercial support was identified for this study.

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