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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Atrichia with papular lesions.

We report a case of atrichia with papular lesions in association with common variable immunodeficiency in an 11-year-old boy. There were identical findings in the patient's father. This rare variant of ectodermal dysplasia typically presents with shedding of normal fetal hair within the first three months. Eyelashes are typically spared. Numerous keratin-filled follicular cysts develop over extensive areas of the skin, usually between the age of 2 and 26 years. These lesions are most numerous on the face, neck, scalp, and extremities. Teeth and nails are entirely normal in these patients. The mode of inheritance of atrichia with papular lesions is uncertain. Our case suggests an autosomal-dominant inheritance pattern, while previous reports have shown autosomal recessive inheritance pattern.[1]


  1. Atrichia with papular lesions. Kanzler, M.H., Rasmussen, J.E. Archives of dermatology. (1986) [Pubmed]
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