Hyalinosis cutis et mucosae: a case report

Abstract

Sirs: Hyalinosis cutis et mucosae (HCM; also referred to as UrbachWiethe disease or lipoid proteinosis) is a rare autosomal recessive disorder of unknown etiology first described by Siebenmann in 1908 [15]. Approximately 200 cases of HCM have been reported worldwide. The disease is manifested by typical changes in the skin and mucous membranes. The skin pathology is characterized by deposition of hyalinelike material in the dermis, especially around small blood vessels and skin appendages. Recently HCM has become recognized as a generalized disorder involving the majority of organ systems [6]. Intracranial calcifications, epilepsy, and memory impairment have been reported as neurological manifestations [6,13]. We report here a case of HCM with intracranial calcification, epilepsy, and familial hypercholesterolemia (FH).A 16-year-old Japanese adolescent was admitted to our hospital complaining of epileptic seizure. His parents were not consanguineous. His father and paternal grandfather had been diagnosed with hypercholesterolemia. His mother and 6-yearold sister were in good health. The patient's birth had been normal, but his parents reported that their son had been hoarse since infancy. At 10 years of age he was diagnosed as having obesity and hypercholesterolemia (total cholesterol, 245 mg/dl), and treatment with cholestyramine was started at a daily dose of 8 g. Epilepsy began at about the same time, and episodes were preceded by déjà vu. The patient usually experienced nausea and a dreamlike state that was followed by amnesia. At first, the epilepsy occurred several times a month; however, it increased in frequency as he grew older to several times a day at the age of 16 years, when he was admitted for evaluation.On physical examination, small pearly papules 2-3 mm in diameter were detected along the free edges of the palpebrae. Numerous scarlike lesions 3-5 mm in diameter were present on the shoulders, dorsum of the hands, and in the cubital fossa. The patient also had several xanthomalike lesions on the elbows. Results of a detailed neurological examination, including testing of recent and remote memory, were entirely normal. The Wechsler Adult Intelligence Scale score was 120 (verbal IQ, 126; performance IQ, 105). Urinalysis, erythrocyte sedimentation rate, and complete blood count findings were all normal. The serum chemistry data were normal except for the results of the lipid analysis. Lipid data during cholestyramine therapy were as follows: total cholesterol, 237 mg/dl; triglyceride, 117 mg/dl; high-density lipoprotein, 40 mg/dl; low-density lipoprotein, 174 mg/dl. The activity of low-density lipoprotein receptors assessed by flow cytometric assay in peripheral blood mononuclear cells [14] was decreased to 45% (normal range: 80-120%). The results of hormonal determinations were unremarkable: intact parathyroid hormone, 22 pg/ml; calcitonin, 42 pg/ml; and 1,25-dihydroxyvitamin D, 36.4 ng/ml. CSF analysis yielded normal findings. Electroencephalography frequently demonstrated spike and slow-wave comple...

Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach‐Wiethe disease and review of the literature

“…n.r: not reported; n.a: not available; CBZ: carbamazepine; TPM: topiramate; PHT: phenytoin; LEV: levetiracetam; ICH: intracranial cerebral haemorrhage. *One of the three cases was previously reported by Ito et al ., .…”

The Involvement of Neuroinflammation and Kynurenine Pathway in Parkinson's Disease

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