Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente-Golé syndrome, is a rare process, frequently inherited. In its complete form it is characterized by pachydermia (thickening of the skin), skeletal changes (periostosis) and acropachia (digital clubbing). We report a patient that consulted for skeletal symptoms, as the acropachia and cutaneous manifest...

We have studied two unrelated boys with isolated left mirror hand and ulnar duplication. Neither had facial anomalies and family histories were unremarkable. We suggest that these boys have segmental Laurin-Sandrow syndrome, or mirror-image duplication, due to somatic mutation involving precursor cells of the left upper limb and that the facial and digital abnormalities in Laurin-Sandrow syndro...

The orofaciodigital syndromes are a group of possibly seven different malformation syndromes including oral, facial, and digital malformations. Type I has X linked dominant inheritance whereas the other types show autosomal recessive inheritance. An exact diagnosis is therefore important for genetic counselling. We here report a girl with orofaciodigital syndrome type I. She had cystic kidney d...

A 19 year female came with the complaints of rectal bleeding, constipation, griping abdominal pain and mucous discharge per rectum. Abdomen was tender on examination. Digital rectal examination in the squatting position revealed unterior rectal wall prolapse to the anal verge. Sigmoidoscopy and biopsy confirmed the diagnosis of Solitary Rectal Ulcer (S.R.U.) Syndrome.

We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.

A 77 year old man with digital gangrene of his left hand had anti-phospholipid antibodies, the lupus anticoagulant and antcardiolipin antibodies. This patient, as far as we are aware, is the first elderly person to present in such fashion with this uncommon syndrome.

We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.

Melanoma is the most lethal form of skin malignancy because of its aggressive behaviour. In advanced disease, interferon alfa can be used as adjuvant therapy. However, this therapy is not free of side effects. We present a case of severe Raynaud syndrome and digital necrosis induced by interferon alfa in a patient with melanoma. Pathogenic mechanisms are discussed.

We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic...

Congenital amniotic band syndrome is a rare congenital abnormality with multiple disfiguring and disabling manifestations. A wide variety of clinical deformities are encountered, ranging from simple ring constrictions and minor digital defects to major craniofacial and visceral defects [1]. The abdomen is a rare location, and thus far, only a few cases of the abovementioned syndrome in the abdo...