title: Congenital psoriasiform erythrokeratodermia with cleidocranial dysplasia, urogenital anomalies and atresia ani.
abstract: We describe two siblings with unique psoriasiform erythrokeratodermia associated with cleidocranial dysplasia, urogenital anomalies and atresia ani. The skin lesions were characterized by demarcated psoriasiform erythema with scaling. A skin biopsy revealed small abscesses containing polymorphonuclear leukocytes in the parakeratotic horny layer, elongation of the rete ridges and dermal papillae, and other findings consistent with psoriasis. A reverse-transcription polymerase chain reaction analysis disclosed increased expression of transforming growth factor alpha in the affected skin lesion of one of the siblings as well as in the skin of a patient with psoriasis. It is suggested that these cases are a variant of a congenital form of psoriasiform erythrokeratodermia.
authors.affiliation: Department of Dermatology, Kawasaki Medical School, Kurashiki, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: A
authors.initials: A
authors.lastname: Hatamochi
authors.forename: M
authors.initials: M
authors.lastname: Arakawa
authors.forename: H
authors.initials: H
authors.lastname: Ueki
authors.forename: S
authors.initials: S
authors.lastname: Nomura
authors.forename: G
authors.initials: G
authors.lastname: Osawa
authors.forename: T
authors.initials: T
authors.lastname: Hata
mesh_terms: D000293:Adolescent; D001003:Anal Canal / Q000002:abnormalities*; D002973:Cleidocranial Dysplasia / Q000473:pathology*; D003873:Dermatitis, Exfoliative / Q000151:congenital* / Q000473:pathology; D005260:Female; D005402:Fistula / Q000151:congenital*; D006801:Humans; D008297:Male; D011565:Psoriasis / Q000151:congenital* / Q000473:pathology; D012003:Rectal Fistula / Q000151:congenital; D012006:Rectovaginal Fistula / Q000151:congenital; D013577:Syndrome; D014522:Urethral Diseases / Q000151:congenital; D014548:Urinary Fistula / Q000151:congenital