Different phenotypic expression of Fabry disease in female monozygotic twins.
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Biomedical subjects
Publications and source records attributed to J Bazex.
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We report the case of a 55-year old man complaining of painful distal changes in the fingers. At physical examination the distal part of the fingers was enlarged as a result of thickening of the soft parts of the ungueal phalanges, and ungueal dystrophies were present. The patient also had inflammatory arthralgia of the distal interphalangeal (DIP) joints, with limited flexion movements. Interrogation revealed a history of cutaneous psoriasis, and radiography of the hands showed DIP arthritis as well as osteitis and periostitis of the ungueal phalanges. The condition was diagnosed as classical psoriatic arthritis of the DIP type, and psoriatic onycho-pachydermo-periostitis, a new form of psoriatic arthritis recently described by Fournié et al. These authors have put forward a physiopathological hypothesis indicating a direct link between psoriatic inflammatory ungueal lesions and lesions of the ungueal phalanx and its soft parts. We had great difficulty in ascertaining the psoriatic nature of this acropachyderma, and we made successive tentative diagnoses of DIP osteoarthritis, pachydermo-periostitis and acromegaly. In this study, we describe the appearance of the ungueal lesions suggestive of psoriasis, and the other clinical forms of psoriatic arthritis.
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The authors present several cases of distal onycholysis from the same family. Inheritance is autosomal dominant. The clinical features include a decreased rate of growth of the nail, scleronychia, a straight or concave proximal edge of detachment, palmoplantar hyperhidrosis and marked sensitivity of the fingers to cold. The lesions of the nails are isolated. This is, to our knowledge, only the third report of such an onychopathy.
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For the same symptoms, (following pruritus without a cutaneous lesion, after contact with water), we must recognise three different etiological circumstances. The physio-pathologies differ in the three cases, as well as their therapy. in aquagenic pruritus of the aged, due to senile sclerosis, the skin must be rehydrated with efficacy but at the same time non-aggressively. in aquagenic pruritus of polyglobulins, therapeutic efficacy of aspirin raises suspicion of involvement of prostaglandins. Idiopathic aquagenic pruritus in young subjects is due to combination of the actions of several chemical mediators. The choice of therapy is difficult and depends on the effect of the addition of bicarbonate of soda to the bath water.
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