Three of our own and 38 previously reported cases of cutis marmorata telangiectatica congenita (CMTC) are reviewed. Light and electronmicroscopic studies revealed atypical capillaries, venules, and veins in different cutaneous layers. Clinically, the lesions are manifested as telangiectasis, capillary hemangioma, cutis marmorata, venous hemangioma and varicose veins, depending on the type of vessels involved and the layer of skin affected. Secondary thrombosis with subsequent localized atrophy and ulceration occurs in a substantial number of cases. In at least 50% of cases there are associated findings. Hypoplasia or hyperplasia of „affected” or of „unaffected” organs is the most common association. Overwhelming sporadic occurrence, female reponderance, occasional minor manifestations in close relatives and considerable clinical variability suggest a multi‐factorial etiology of CMTC.
A 35-year-old black man and his two daughters have massive keratoderma of the palms and soles and ainhum-like constrictions of the fifth toes in two of the three patients. Although there are various types of familial hyperkeratosis, our patients have dermatologic manifestations most consistent with Vohwinkel's keratoma hereditarium mutilans.
The urinary levels of pseudouridine in 16 healthy subjects and 16 patients with psoriasis were evaluated with boronate affinity gel chromatography and reversed phase high-performance liquid chromatography. The mean values of pseudouridine (nmol)/creatinine (mumol) for controls and patients were 21.34 and 18.48 for males, and 21.67 and 23.90 for females, respectively. No significant difference was observed between controls and patients.
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