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Miescher's syndrome
Also known as:
Bloch-Miescher syndrome
Associated persons:
Bruno Bloch
Alfred Guido Miescher
Description:
A familial syndrome characterized by acanthosis nigricans in combination with hypertrichosis, failure to thrive, growth deficiency, lipodystrophylike disorders, insulin-resistant diabetes mellitus, and orofacial deformities with coarse facies. The body is small and short with a decreased amount of the subcutaneous adipose tissue. Associated disorders may include mental deficiency, high-arched palate, fissured tongue, milky oral mucosa, stubby fingers and toes, and goiter. Lesion may be present at birth, but usually develop in childhood, seldom after puberty.
Occurs in two types. Type A in young females is marked with signs of virilization and accelerated growth. Type B, in older females, is an immunologic disease with circulating antibodies, insulin receptors. Possibly transmitted as an autosomal recessive trait,
Bibliography:
- G. Miescher:
Zwei Fälle von kongenitaler familiärer Akanthosis nigricans, kombiniert mit Diabetes mellitus. Dermatologische Zeitschrift, Basel, 1921, 32: 276-305.
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