1/12. Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome? We report the combination of hemifacial microsomia, external auditory canal atresia, deafness and acro-osteolysis in several members of a highly consanguineous Asian family. In addition Mullerian anomalies have been found in two female members of the family. The external auditory canal stenosis and Mullerian anomalies in this family are similar to those reported by Winter et al. [(1968) J Pediatr 72 : 88-93] and overlap with those found in goldenhar syndrome and Mullerian duct/renal aplasia/cervicothoracic somite dysplasia (MURCS), CHARGE and VATER associations. However, to the authors' knowledge, acro-osteolysis has not been reported in patients with any of these conditions. overall, the findings in this family appear to be unique and the presence of consanguinity suggests an autosomal recessive condition with variable expression. ( info) |
2/12. Hadju-Cheney syndrome: response to therapy with bisphosphonates in two patients. Hadju-Cheney syndrome is characterized by short stature, distinctive facies, and a slowly progressive skeletal dysplasia including acro-osteolysis. Autosomal dominant inheritance is typical, but the genetic defect and molecular pathogenesis of the syndrome are unknown. osteoporosis with atraumatic fracture is a frequent finding, and previous studies have documented biochemical and morphometric evidence of high bone turnover. Here, we report the clinical details and response to therapy with bisphosphonates in two patients (mother and son) with Hadju-Cheney syndrome and postulate that osteoclast-mediated bone resorption is important in the generalized osteoporosis commonly associated with this condition. ( info) |
3/12. Idiopathic phalangeal acroosteolysis: a case report. Acroosteolysis is characterized by bone resorption in the fingers and toes and can occur in several diseases. Phalangeal acroosteolysis is a rare idiopathic form. We report a case in a 13-year-old girl with a 2-year history of swelling and skin ulcers of the second and third left fingers and second right finger. The fingers were abnormally short and the nails were hypertrophic. Roentgenograms disclosed terminal phalangeal resorption in the fingers and toes. Findings were normal from tests for inflammation and dysimmunity. Biopsies of the skin lesions showed fibrosis without inflammation. Neurological evaluation and electromyographic study were normal. Serological tests for syphilis were negative. calcium and phosphate levels in blood and urine were normal. A diagnosis of idiopathic phalangeal acroosteolysis (Joseph and Shinz disease) was given. This inherited form of acroosteolysis is transmitted on an autosomal dominant or recessive basis. It affects the tips of the distal phalanges of the fingers and toes but occasionally spreads to other bones. ( info) |
4/12. adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism. We experienced a 57-year-old female with adult-onset non-congenital idiopathic acro-osteolysis combined with proximal symphalangism. At the age of 36, she developed severe pain and swelling of the toe base of both feet and underwent Clayton surgery. However, the size of her toes diminished progressively over the 5-year period after surgery. At the age of 41, she suffered pain and swelling of the proximal interphalangeal (PIP) joints of fingers of both hands. These PIP joints became rigid and inflexible. Subsequently, she noticed shortening of the little finger of both hands, followed later by shortening of the index, middle, and ring fingers. At the age of 57, the thumbs began to shorten. Laboratory and endocrinological examinations were not abnormal. Finally, we diagnosed her with acro-osteolysis combined with proximal symphalangism by radiological examination. In this case, previously unreported mutations of the Noggin gene were identified. This is the first case report of adult-onset, non-congenital idiopathic acro-osteolysis combined with proximal symphalangism. ( info) |
5/12. A case of mandibuloacral dysplasia presenting with features of scleroderma. Juvenile scleroderma, a relatively rare condition, may be confused with a number of progeroid syndromes like Hutchinson-Gilford syndrome, werner syndrome and rothmund-thomson syndrome. In this case report, we describe a 9-year-old boy who presented with sclerodactyly, acroosteolysis and scleroderma-like involvement of the skin over hands and feet, which suggested a diagnosis of juvenile scleroderma initially. However, absence of Raynaud's phenomenon, sparing of the skin other than hands and feet and negative serological studies did not support this diagnosis. On the basis of additional findings (micrognathia, dental malformation, a 'beaked nose', open cranial sutures and sparse hair), the patient was diagnosed as mandibuloacral dysplasia, a rare autosomal recessive disease. This case demonstrates that mandibuloacral dysplasia should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and micrognathia. ( info) |
6/12. Faun tail naevus: a cutaneous marker of spinal dysraphism. We describe three cases (one male and two females) of faun tail nevi, which is one of the most important cutaneous marker of spinal dysraphism. One of the patients presented with acro-osteolysis leading to auto amputation of the toes of the left foot, which required operative intervention. This lays stress on the early recognition of lumbar paraspinal skin lesions and early treatment to avoid irreversible sequelae. ( info) |
| Cutaneous involvement in severe carpal tunnel syndrome is secondary to damage to sensory and autonomic fibers of the median nerve. We report the case of a 63 year old man who presented skin and bone lesions, confined to the sensory zones of both median nerves. The lesions consisted of dystrophic modifications of the fingernails, progressive sclerosis, skin thickening and ulcerations on the fingers, acro-osteolysis, and purulent inflammation with subsequent auto-amputation of the distal phalanx of the right index finger. Clinical, neurophysiological and surgical findings are reported. The recovery of the ulcerative lesions suggests the reversibility of autonomic disturbances after surgery. ( info) |
8/12. Mandibuloacral dysplasia: a report of two Egyptian cases. Mandibuloacral dysplasia (MAD) is a rare disorder. Only 35 patients, coming from 22 families, have been reported worldwide. We report on two Egyptian unrelated girls with MAD. The first patient presented at the age of 5 years with acral defect and partial alopecia. The second patient presented at the age of 17 years with progressive micrognathia and loss of subcutaneous fat from the limbs. physical examination detected the craniofacial, skeletal and cutaneous changes characteristic of MAD. Both patients were short with progeroid facies and loss of subcutaneous fat from the extremities, which fits lipodystrophy type A pattern. Radiological examination revealed delayed closure of cranial sutures, hypoplastic mandible, hypoplastic clavicles, and acroosteolysis. Both patients had normal glucose tolerance, but had fasting and post-prandial hyperinsulinemia, suggestive of insulin resistance. One patient had elevated serum triglycerides and low normal cholesterol levels, while the other patient had normal levels. serum leptin was normal in both patients. We review the literature on mandibuloacral dysplasia and discuss the differential diagnosis. ( info) |
9/12. Early Marjolin's ulcer in Bureau-Barriere syndrome. Bureau-Barriere syndrome (BBS) describes a rare destructive process affecting skin and bone resulting from an acquired unilateral or bilateral polyneuropathy. Clinically, it is characterized by a triad of symptoms, namely, acral ulcerations, polyneuropathy, and bone lesions. To date, the development of Marjolin's ulcer in the course of BBS has not been described to the authors' knowledge. ( info) |
10/12. Marjolin's ulcer--a near forgotten entity. We report a case of a 55-year-old man who presented with a 6-month history of a fungating ulcer on the right hand at the site of a previously healed ulcer that had been present for 40 years. Histopathological examination of four-quadrant biopsy specimens showed a moderately differentiated squamous cell carcinoma (SCC). A transradiocarpal amputation with stump closure using radial flap was performed as it was not possible to achieve a functionally and cosmetically acceptable hand after a wide excision with 2 cm tumour-free margin. It is our intention to highlight this rare condition as reminder to consider this entity as a differential diagnosis of chronic non-healing skin ulcer. ( info) |