Results 291 to 300 of about 176,113 (383)

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm   +5 more
wiley   +1 more source

The Girl with a Pearl Earring: A dermatological puzzle

open access: yes
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Giampiero Girolomoni   +2 more
wiley   +1 more source

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho   +7 more
wiley   +1 more source

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