22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
3 citations
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June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
19 citations
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October 1996 in “International Journal of Dermatology” This study concluded that pseudopelade is an autosomal dominant condition, distinct from other forms of alopecia, characterized by atrophic hair follicle loss and notable familial association.
32 citations
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May 1986 in “Archives of Dermatology” This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.
14 citations
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June 1989 in “Journal of dermatology” This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.