abstract a solitary plasmacytoma of bone occurs in approximately 2-5% of patients with myeloma. the lesion mostly found in the axial skeleton and have infrequently been reported to arise in the hand, and usually occur in the distal phalanges. we report the interesting case of a 75-year-old man who developed a solitary lytic lesion of the thumb proximal phalanx. this lesion was explored through ...

Q1: What is the diagnosis? The diagnosis is pycnodysostosis, which is a rare form of skeletal dysplasia characterised by moderate and generalised osteosclerosis. The diagnosis is based on clinical features and radiological findings. The cardinal features are short stature, large open fontanelles (the fontanelles may remain open even in adulthood), an obtuse mandibular angle, dysplastic clavicle...

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficu...

Disseminated mycobacterial infection after bacillus Calmette-Guerin (BCG) vaccination is a very rare disorder, occurring mostly in patients with immunologic deficiency. We report a case of disseminated BCG infection in a 16-month-old girl with severe combined immunodeficiency. Plain radiographs showed multiple osteolytic lesions in the femora, tibiae, humerus, and phalanges. Abdominal sonograph...

A female patient, 56 years old, with type A Wolff-Parkinson-White (WPW) syndrome and congenital skeletal abnormalities of the hands and feet is described. Though all four limbs were affected, the patient's main disability was caused by the defects of the right hand: this was short and hypoplastic, with hypoplastic phalanges, absent nails, syndactyly, and fibrous constriction rings on the finger...

We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or m...

Q1: What is the diagnosis? The diagnosis is pycnodysostosis, which is a rare form of skeletal dysplasia characterised by moderate and generalised osteosclerosis. The diagnosis is based on clinical features and radiological findings. The cardinal features are short stature, large open fontanelles (the fontanelles may remain open even in adulthood), an obtuse mandibular angle, dysplastic clavicle...

Hallopeau in 1897 1.2 described acrodermatitis continua as characterised by sterile, pustular eruption affecting the skin of the distal phalanges of the fingers and toes, which eventually led to destructive changes of the affected digits. The lesions are usually symmetrical and give rise to persistent erythematous, glazed area of skin. These on occasions developed into generalised pustular psor...

A brother and sister, children of normal parents are described. They had retinitis pigmentosa, causing near-blindness as a result of very narrow fields of vision, associated with metaphyseal chondrodysplasia and marked shortening of the metacarpals and terminal phalanges. Autosomal recessive inheritance is suggested with a common biochemical cause for all these defects. This apparently new asso...