Many patients complain of painful feet. While this problem may seem minor to the physician, it causes the patient considerable distress. Some of these conditions are readily amenable to treatment; others require continuing care. Much relief can be given by simple office procedures and by correcting ill-fitting footwear. (+info)
Bilateral delta phalanx of the proximal phalanges of the great toes. A report on an affected family.
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The condition known as delta phalanx (or longitudinally bracketed epiphysis) is a rare congenital anomaly first described in 1964. The deformity consists of a triangular bone with an epiphysis running along the shortened side of the phalanx in a proximal to distal direction, making longitudinal growth of the digit impossible. Isolated hallux varus congenitus due to a delta phalanx of the proximal phalanges of both great toes is extremely rare: there have been only three such cases reported, two of which were in one family--the only report of a familial occurrence of this deformity. This present report details the occurrence of isolated bilateral hallux varus congenitus in four members of one family, a father and his three eldest children. All three children show bilateral delta phalanx of the proximal phalanges of both great toes. There are associated thumb nail anomalies, but no suggestion of polydactylism. (+info)
The Sabinas syndrome.
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We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased. (+info)
Primary systemic amyloid with nail dystrophy.
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We report a patient with the classical cutaneous findings of primary systemic amyloidosis, due to myeloma. He had developed a nail dystrophy, which is a recognized, but rare, feature in systemic amyloid. (+info)
Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.
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Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10. (+info)
Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect.
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Three children with an unusual but clearly defined combination of clinical findings that appear to have been inherited in an autosomal recessive manner are described. All had developed laryngeal abnormalities, chronic skin ulceration, nail dystrophy, and conjunctival disease in infancy. In every case, dental enamel was hypoplastic and both skin and mucosal surfaces demonstrated increased susceptibility to trauma. Progression of disease occurred, to life threatening respiratory obstruction in two cases and to effective blindness and fatal respiratory obstruction in the third child. All of these children came from the Pakistani ethnic group. No medical treatment has halted progression of this disease but laser therapy has been partially successful in alleviating laryngeal manifestations. Ultrastructural and immunohistological examination of unaffected skin was undertaken in each child. No abnormality was found in the child with the mildest clinical disease. Both of the other children showed abnormal hemidesmosomes on ultrastructural examination. The most severely affected child also had abnormally weak immunoreactivity with antibodies G71 and GB3 directed against basal cell alpha 6 beta 4 integrin and the basement membrane glycoprotein nicein respectively. These abnormal findings are also seen in skin from patients with junctional epidermolysis bullosa. These three children have the laryngo-onycho-cutaneous syndrome, which may not be rare in their ethnic group. The available clinical and pathological evidence is consistent with this syndrome being caused by an inherited defect affecting the lamina lucida of the skin basement membrane zone. The laryngo-onycho-cutaneous syndrome may therefore represent a new and distinctive type of junctional epidermolysis bullosa. (+info)
First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while the female had a branchial cyst on the left side of the neck. The parents of both the cases were completely normal. The patients had distinct clinical similarity to the condition described by Witkop (1965) as 'Autosomal dominant dysplasia of nails and hypodontia' but the nails were less affected and the mode of inheritance was completely different. (+info)
Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.
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We report two families with the Witkop "tooth and nail syndrome". This term is a misnomer, as the hair was mildly involved in the original case reports and in the families reported here. (+info)