Premium
KID Syndrome: Congenital Ichthyosiform Dermatosis with Keratitis and Deafness
Author(s) -
Muramatsu Tsutomu,
Shirai Toshihiko,
Sakamoto Kuniki
Publication year - 1987
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.1987.tb03550.x
Subject(s) - dermatology , hyperkeratosis , hypotrichosis , medicine , epidermolysis bullosa simplex , ichthyosis , pathology , dyskeratosis , biology , epidermolysis bullosa , genetics , gene
A 2‐year‐old male with KID syndrome was presented. Family history was negative for similar skin disease. The patient showed generalized ichthyosiform erythroderma, vascularizing keratitis, and neurosensory deafness. Additional clinical features included nail dystrophy, hypotrichosis, anhidrosis, and recurrent cutaneous bacterial and fungal infections. Histologic examination disclosed a basket‐weave pattern of hyperkeratosis and irregular papillomatous configuration of the epidermis. Electron microscopic examination showed an excessive amount of glycogen in the cytoplasm of erector pili muscle cells. This is the first case reported in Japan.