Protean manifestations of lipoid proteinosis in a 16-year-old boy.
We report a 16-year-old Japanese male with lipoid proteinosis showing various skin manifestations. The patient was born to nonconsanguineous parents and none of his relatives was similarly affected. The patient suffered from a hoarse voice and refractory temporal epilepsy from early childhood. Computed tomography scanning of the brain showed bilateral calcification in the temporal lobes, a characteristic feature of lipoid proteinosis. On physical examination, various skin manifestations, including papules and haemorrhagic blisters, acne-like scars at sites of minor trauma or friction, and beads of small papules along the free margins of the eyelids were noted. A skin biopsy showed deposits of homogeneous hyaline-like material, positive on periodic acid-Schiff staining, throughout the dermis, particularly around small blood vessels. It is noteworthy that a range of characteristic skin lesions can be present in a patient with lipoid proteinosis even with mild systemic involvement.
Nagasaka
T
T
Departments of Dermatology; Neurology, Keio University School of Medicine, Tokyo, Japan. tnaga@kyorin-ua.c.jp
Tanaka
M
M
Ito
D
D
Tanaka
K
K
Shimizu
H
H
D000293:Adolescent; D001706:Biopsy / Q000379:methods; D002921:Cicatrix; D006685:Hoarseness / Q000150:complications; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000473:pathology*; D008297:Male