Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome / Mutación c.1190-1delG/N en el intrón 8 y c.1708G>C/N en el exón 12 no reportada en el gen de IDUA desarrolló un fenotipo clínico de síndrome de Scheie

Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of α-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the IDUA gene. We report the case of a 34-year-old male patient with enzymatic deficiency of α-L-iduronidase, accumulation of its substrate and a previously unreported mutation in the IDUA gene that developed a phenotype of Scheie syndrome.

Las mucopolisacaridosis son un grupo de trastornos de almacenamiento lisosomal causada por la deficiencia de enzimas que catalizan la degradación de glicosaminoglicanos. La mucopolisacaridosis tipo I puede presentar un amplio rango de características fenotípicas englobadas en tres entidades clínicas reconocidas: los síndromes de Hurler y Scheie representan los fenotipos graves y leves del espectro clínico, respectivamente y el síndrome de Hurler-Scheie intermedio en la expresión fenotípica. Estos son causados por la deficiencia o ausencia de la α-L-iduronidasa esencial para el metabolismo del dermatán y el heparán sulfato y es codificada por el gen IDUA. Se presenta el caso de paciente masculino de 34 años de edad con deficiencia enzimática de α-L-iduronidasa, acumulación de su sustrato y una mutación en el gen IDUA, no reportada previamente, que desarrolló un fenotipo del síndrome de Scheie.

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.

Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of alpha-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the lDUA gene. We report the case of a 34-year-old male patient with enzymatic deficiency of alpha-L-iduronidase, accumulation of its substrate and a previously unreported mutation in the IDUA gene that developed a phenotype of Scheie syndrome.

Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads.

Knuckle pads are a rare, frequently overlooked, thickening of the skin usually overlying the extensor surface of the proximal interphalangeal joints. They are well- circumscribed, benign lesions that generally do not require treatment. Idiopathic knuckle pads must be differentiated from similar appearing lesions or trauma-induced pseudo-knuckle pads. Knuckle pads have been observed in association with autosomal dominant conditions such as Bart-Pumphrey syndrome, Dupuytren's contracture, Ledderhose disease, and Peyronie's disease. To the best of our knowledge, idiopathic familial knuckle pads have not previously been described in the English language literature. We describe a sister and brother with familial idiopathic knuckle pads with no associated conditions.

Camptodactyly: a 10-year series.

Camptodactyly is a non-traumatic, painless, non-neurogenic flexion deformity at the proximal interphalangeal joint of the little finger, which may occur in isolation or in various developmental dysmorphology syndromes. In a ten-year survey of almost 10,000 consecutive neurology outpatient referrals, using a passive case finding strategy, camptodactyly was observed with a frequency of 0.43%. All were cases of isolated camptodactyly, and all but one were asymptomatic. Camptodactyly was more often bilateral, often asymmetric, than unilateral. A family history was common, sometimes with intrafamilial heterogeneity (symmetry, degree of angulation). The pattern of inheritance was not certain, but the predominance of female cases (both directly observed and reported in families) and a paucity of father-to-daughter cases suggested the possibility of either sex-linked dominant transmission or mitochondrial DNA point mutation. There was no evidence for aminoaciduria or taurinuria, as previously reported in some cases. Hence, camptodactyly is relatively common as an incidental finding in patients referred to general neurological outpatient clinics, and thus possibly also in the general population. It is possible that camptodactyly is a heterogeneous disorder. Further studies are required to ascertain whether this is the case, and to probe further the inheritance and pathogenesis of the disorder.

[Hand management in recessive dystrophic bullous epydermolysis]. / Il trattamento della mano nel paziente affetto da epidermolisi bollosa distrofica recessiva.

PURPOSE: Recessive distrofic epidermolysis bullosa creates severe hand deformities with disabling functional limitations. Hand surgeon should perform surgery when deformity inibits function, in order to restore the pinch. MATERIALS AND METHOD: We present our experience on 44 patients and 58 operated hands, with the following schema: hand degloving, grafting of the first web and intraoperative dynamic splinting. RESULTS: In 30 patient with an 8 years follow up, 25 had had good or excellent results, and the 5 remaining shows early recurrence. CONCLUSION: Association of a correct surgical approach and adequate intra and post-operative rehabilitation improve hand function and a slow down inevitable recurrence.

Postoperative hand treatment in children with recessive dystrophic epidermolysis bullosa.

The purpose of this study is to give an overview of the postoperative hand treatment options in children with recessive dystrophic epidermolysis bullosa (EB) and to introduce a treatment protocol and discuss the indications and timing. Recessive dystrophic EB is a rare hereditary blistering skin condition, which leads to severe hand deformities. The aim of surgical intervention is to temporarily increase hand function and delay the recurrence of deformation. The aim of postoperative treatment is to maintain optimal range of motion of the wrist, fingers, and thumb and to delay recurrence of deformity to enlarge the possibilities of hand function. Two postoperative treatment programs are described in the literature: a program with static splinting and a program with dynamic splinting. Both splinting programs include exercises. This postoperative treatment program for EB starts with dynamic splinting, followed by static splinting in combination with exercises.

Ten trigger fingers in an adult man: a case report.

Trigger finger is a common disease particularly in the middle aged women. A very rare case in which an adult man had 10 trigger fingers was experienced. He was treated with local steroid injections in both thumbs, but trigger finger disease has been aggravated in every digit of both hands. We performed an early operative treatment. Three months after the operation, the patient could perform his work without discomfort in his hands and showed normal range of motion in all fingers.

Ten Trigger Fingers in an Adult Man: A Case Report

Trigger finger is a common disease particularly in the middle aged women. A very rare case in which an adult man had 10 trigger fingers was experienced. He was treated with local steroid injections in both thumbs, but trigger finger disease has been aggravated in every digit of both hands. We performed an early operative treatment. Three months after the operation, the patient could perform his work without discomfort in his hands and showed normal range of motion in all fingers.

[Arthrosis of the hands]. / Arthrose des mains.

A GENETICALLY DETERMINED AFFECTION: For more than two centuries, successive studies have led one to consider arthrosis of the hands as a genetically determined affection, but the localization of the genes responsible is unknown. Other than this genetic factor, various etiological factors have been identified (age-related increase, predominance in women, influence of hormones and obesity, mechanical factors...). Its incidence is of 100 per 100,000 persons/year. IDENTIFICATION OF PATIENTS: The clinical criteria retained for arthrosis of the hands are those of the American College of Rheumatology (ACR). Radiological scores have been established to permit good identification. SELECTION AND EVALUATION: The selection requires the use of classical radiological criteria and the clinical criteria of the ACR or those proposed by Lequesne and Maheu for the study of symptomatic drugs. For drugs with structural effect, an X-ray alone is sufficient. The pain measured on a visual analog scale is the principle criterion of efficacy in clinical trials. It is also possible to measure pain using Maheu's weekly assessment, the daily consumption of analgesics and/or anti-inflammatories, or again Drieser's algofunctional index or the AUSCAN.

Genetics of hand osteoarthritis.

There is convincing epidemiological evidence for a strong hereditary component to hand osteoarthritis (OA). For example: (1) greater concordance for hand OA in monozygotic than in dizygotic twins, the estimated proportion of variance explained by genetic factors being as high as 0.59; and (2) a substantially increased risk of hand OA in first-degree relatives (siblings, parents, offspring) of subjects with hand OA. Such evidence clearly justifies a search for the genes involved. However, gene association studies in genetically complex polygenic conditions such as OA present many problems, including case definition, late age of phenotype expression and adjustment for other constitutional and environmental risk factors. Nevertheless, association studies of affected sibling pairs and nuclear families, using candidate gene and genome wide screening and transmission disequilibrium testing, suggest no association with candidates such as COL2A1 (responsible for some rare monogenic syndromes of premature generalized OA) but possible associations, currently not isolated, on chromosome 2q. Such ongoing work and subsequent gene-gene and gene-environment interaction studies are likely to give important, perhaps unexpected, insights into the pathogenesis of hand OA.

[Psychogenic hand dystonia and hereditary polyneuropathy with liability to pressure palsies. A contribution to etiology of dystonias]. / Psychogene Handdystonie und hereditäre Polyneuropathie mit Neigung zu Druckparesen. Ein Beitrag zur Atiologiediskussion von fokalen Dystonien.

We report on a case of a female who had developed a fixed flexion contracture of the 4th and 5th fingers of the right hand which was painless and at-rest right in the beginning at the age of 19. By means of neurographical examinations a hereditary neuropathy with liability to pressure palsies was established in her and her mother, which had clinically manifested with symptoms of the ulnar nerve at the affected hand. The dystonic symptoms did not show any progression within ten years follow-up. A remarkable feature of the course was the twice repeated occurrence of short, sudden and complete remissions immediately following invasive diagnostic procedures. The thorough discussion of differential diagnostic aspects and the analysis of the familiar situation and psychodynamics of the patient resulted in the diagnosis of a psychogenic hand dystonia.

Epidemiologic study of the mallet finger deformity.

An epidemiologic survey of 24 members of a three-generation family revealed an unusually high incidence of mallet fingers. Twenty mallet fingers were found in seven family members by clinical examination, suggesting a familial predisposition to develop this deformity. Multiple mallet fingers (range, two to six) occurred in four individuals. Classification of these mallet fingers based on the mechanism of injury demonstrated a high incidence (85%) resulting from minimal trauma or occurring spontaneously. Symptoms and signs of bilateral carpal tunnel syndrome were documented in five family members with mallet fingers (71%), and three individuals with mallet finger deformities also had associated trigger fingers (43%).

Manic depressive psychosis with mental retardation and flexion deformities: a clinical and cytogenetic study.

Five mentally handicapped patients are described in whom a bipolar manic depressive psychosis was associated with flexion deformities, involving principally the fingers. The effect of increasing degrees of retardation on the clinical presentation of the affective psychosis is discussed. Surgical treatment of the flexion deformity brought about considerable improvement in one patient. These five patients were further investigated cytogenetically using high resolution banding techniques. The results obtained were interesting but inconclusive. There would seem to be a definite place for further cytogenetic investigations of some of the more distinctive psychotic disorders using this technique.

Familial cheiroarthropathy without juvenile onset diabetes mellitus.

Cheiroarthropathy is a recently recognised complication of juvenile onset diabetes mellitus. It comprises inability to extend fully the fingers, contracted tendons, and waxy thickening of the skin overlying the fingers and to a lesser extent the hands. We report two families in which one parent and a number of siblings had the typical features of cheiroarthropathy without juvenile onset diabetes mellitus. The changes developed gradually during childhood and did not progress after adolescence. There were no other abnormal clinical findings, no persistently abnormal laboratory tests, and no association with a specific HLA phenotype. There are some similarities with scleroderma and its recognition is important to prevent unnecessary treatment and to reassure patients.

Progressive systemic sclerosis in a family: case report of a mother and son and review of the literature.

Progressive systemic sclerosis (PSS) developed in a 6-year-old boy and in his 38-year-old mother 9 years later. Both parent and child had Raynaud's phenomenon, integumental sclerosis, and pulmonary involvement, but they differed in other aspects of their disease. Previous descriptions of the familial occurrence of PSS are reviewed and compared to the present case reports. Environmental and genetic factors of possible etiologic significance are discussed.