关键词: focal facial dermal dysplasia focal preauricular dermal dysplasia hair collar sign membranous aplasia cutis congenita

Mesh : Ectodermal Dysplasia / diagnosis Face / pathology Focal Facial Dermal Dysplasias Humans Infant, Newborn Male Skin / pathology

来  源:   DOI:10.1111/pde.13730   PDF(Sci-hub)

Abstract:
We present a rare case of focal facial dermal dysplasia type 4 (FFDD4) in an otherwise healthy boy infant, presenting as bilateral preauricular scarlike defects surrounded by a hair collar, resembling membranous aplasia cutis congenita. The presence of a hair collar supports the hypothesis that FFDD is caused by abnormal closure at facial embryonic fusion lines, but unlike midline scalp defects is not associated with neurological compromise. Other types of FFDD occur at different sites and can be associated with cranial dysgraphism. Awareness of this rare condition by dermatologists is imperative to enable prompt recognition and minimize diagnostic delay.
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