Granulomatous glossitis as an unusual manifestation of Melkersson-Rosenthal syndrome.

The case of a 59-year-old man with granulomatous glossitis is presented. The patient complained of increasing swelling of his tongue for years and a recent onset of perioral edema. Because of sarcoid-like granulomas found in a first lingual biopsy specimen, the disease was initially misdiagnosed as a localized form of sarcoidosis.

[Unilateral eyelid swelling in naevus flammeus faciei. Problems in differential diagnosis of unilateral eyelid swelling].

A 32-year-old white woman presented with persistent swelling of the right upper eyelid for diagnosis and therapy. History and physical examination revealed a faint nevus flammeus on the right side of her face and neck and bilateral blepharochalasis, both of which can produce unilateral periorbital swelling. A biopsy taken for histology was diagnostic in this case, since it showed lymphoedema secondary to lymphangiectasias associated with the patient's port-wine stain.

[Snake bite by a poisonous snake. Report of an unusual case].

We report on a 31-year-old white woman, who was bitten in her right calf by a "spitting cobra" (Neia nigricollis) during a safari in Tansania. Minor initial systemic symptoms such as nausea and vomiting were followed by severe oedematous swelling of the extremity after 2-3 h and demarcation of a 2.75 x 2.

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy.

Duchenne muscular dystrophy (DMD) and the allelic milder form of Becker muscular dystrophy (BMD) are caused by mutations of the dystrophin gene on the short arm of the X chromosome. One third of affected individuals are expected to result from de novo mutations. Genetic counselling of families with sporadic cases is complicated by the potential meiotic origin of the mutation in the mother resulting in germline mosaicism.

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.

A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region.