Abstract | BACKGROUND: OBSERVATIONS: We describe a 22-year-old woman who, since the age of 12 years, presented with progressive ACD affecting the lower limbs and the buttocks. Enzymatic studies revealed beta-mannosidase deficiency in cultured fibroblasts and in samples of serum and leukocytes. The patients's parents in turn exhibited intermediate enzyme levels, thus confirming the recessive autosomal hereditary nature of the disease. With the exception of an introverted character, the patient demonstrated no other anomalies. CONCLUSIONS:
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Authors | M Rodríguez-Serna, R Botella-Estrada, A Chabás, M J Coll, V Oliver, M I Febrer, A Aliaga |
Journal | Archives of dermatology
(Arch Dermatol)
Vol. 132
Issue 10
Pg. 1219-22
(Oct 1996)
ISSN: 0003-987X [Print] United States |
PMID | 8859034
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Mannosidases
- beta-Mannosidase
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Topics |
- Adult
- Fabry Disease
(complications, enzymology, pathology)
- Female
- Humans
- Mannosidases
(deficiency)
- Skin
(pathology)
- beta-Mannosidase
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