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A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization

✍ Scribed by Horii, Emiko; Sugiura, Yasuo; Nakamura, Ryogo

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 27 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:1<1::aid-ajmg1>3.0.co;2-8

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✦ Synopsis

We report on a girl with fibrous tumors involving hands and feet associated with unusual brachydactyly and facial abnormalities with pigmentary skin lesions. The multiple, infiltrative fibrous tumors clinically resembled recurring digital fibromata (RDF) of infancy, but eosinophilic cytoplasmic inclusion bodies pathognomonic for RDF were not demonstrated in her tumor cells. Skeletal alterations of the hands and feet comprised brachymesophalangy with cone-shaped epiphyses and variable shortening and deformity of the metacarpals and metatarsals. Facial abnormalities included upward slant of palpebral fissures, primary telecanthus with epicanthal folds, and a depressed nasal tip, along with a small fibrous tumor on the left eyelid. The patient also had patchy, brownish discolorations of the face. The clinical, radiological, and histological constellation in the patient may represent a hitherto undescribed hamartomatous syndrome. Am.

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