Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.
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چکیده
منابع مشابه
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.
Autosomal dominant inheritance of a syndrome comprising palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy (HMSN) was observed in three generations of one family. Nail dystrophy affected the toe and fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystr...
متن کاملAutosomal recessive forms of hereditary motor and sensory neuropathy.
Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the mean age of onset was significantly ea...
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Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from t...
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BACKGROUND Hereditary palmoplantar keratodermas (HPPK) are relatively frequent in Slovenia; however, the papulosa type of HPPK is rare. Epidemiological data are scarce; a population study in Croatia revealed a prevalence of 1.17/100,000 inhabitants. According to the preliminary data, it seems that HPPK papulosa is more common in Slovenia than in other countries. Efforts were made to identify al...
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A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.11.754