Pycnodysostosis is a rare systemic bone disease whose cardinal features are generalized osteosclerosis and dwarfism. Characteristic skeletal defomities ensue, such as failure of closure of cranial sutures, obliquity of the mandibular angle, and defects of the terminal phalanges. This disease is suspected to be congenital heredity. In this report, a case of pycnodysostosis of a 20-year-old man w...

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form We report a case of autosomal dominant inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the mal...

The patient presented symmetrical, erythematousviolaceous plaques on the distal phalanges of the fingers and toes; the plaques had a hyperkeratotic and desquamative surface (Figures 1 and 2). There was also slight reddening and desquamation of the lobes of the ears. In addition, the patient was asthenic, with mild jaundice of the skin and mucosas, and presented hepatomegaly and palpable right l...