A Japanese case of Neu-Laxova syndrome.
A 5-day-old Japanese female with Neu-Laxova syndrome was presented. The patient had severe edema throughout the body, desquamation, and erosion of the skin. She also exhibited microcephaly, exophthalmos, and rocker-bottom feet. Histologic examinations of a cutaneous specimen showed atrophy of the dermis and absence of the sebaceous glands. These represent embryonic abnormalities. Even though there was no hypoplasia of the cerebellum and lungs or hydramnios, we evaluated this patient as the first Japanese case of this sporadic disease. With intensive care, including dermatological treatment, the patient survived for 134 days.
Hirota
T
T
Department of Dermatology, Yamaguchi University School of Medicine, Ube, Japan.
Hirota
Y
Y
Asagami
C
C
Muto
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000196:embryology; D007564:Japan; D008831:Microcephaly / Q000196:embryology; D012868:Skin Abnormalities / Q000196:embryology; D013577:Syndrome