Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome.

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies.

Una radiografía con sorpresa: osteopoiquilosis / An X-ray with a suprise: osteopoikilosis

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Mixed sclerosing bone dysplasia--a case report with literature review.

We report a case of mixed sclerosing bone dysplasia in a 26-year-old man. This is a very rare disorder characterized by a variable combination of melorheostosis, osteopoikilosis and osteopathia striata. The disease may be generalized or may show unilateral involvement.

[A case of osteopoikilosis]. / Przypadek osteopoikilii.

On the basis of literature and own observation a very rare form is discussed of skeletal system anomaly--osteopoikilosis+ which is considered to be a genetically determined, benign skeletal dysplasia. It manifests itself with numerous spotty densities of bony structure situated usually near the joints of long bones. They may be erroneously regarded as malignant metastases. The reported case of osteopoikilosis+ conformis the hereditary character of the disease.

[Birt-Hogg-Dubé syndrome as an expression of tuberous sclerosis. Apropos of 2 personal cases in 2 sisters]. / El síndrome de Birt-Hogg-Dubé como forma de expresión de la esclerosis tuberosa. A propósito de dos observaciones personales en dos hermanas.

Two familial observations of Birt-Hogg-Dubé syndrome are reported. In fact they were cases of tuberous sclerosis. The authors comment that probably this syndrome is an expression form of tuberous sclerosis.