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Results for “NAILS, MALFORMED”

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At least 19 recordsLinked to original sources

[Surgical interventions on the nail: indications and contraindications].

Nail surgery might be performed for diagnostic and therapeutic reasons. A diagnostic biopsy is indicated for unclear disturbances of nail formation, atypical inflammations, suspicious pigmentations and neoplasias of the nail organ. The following alterations have to be absolutely treated by surgery: solitary pigmented streaks, tumors, ingrowing nails (stage III), panaritium and traumatic injuries of the nail organ. Relative surgical indications are onychogryposis, nail mycoses, discolorations due to chromogenic bacteria and subungual warts, as well as large subungual haematomas, longitudinal split nails and recalcitrant chronic paronychias. However, there are some contraindications for surgical intervention especially for simple avulsions of the nail plate. With malformed nails due to matrix diseases, large scars of the nail bed or ingrowing nails, an extraction of the nail plate does not have any healing effect. Instead repeated nail extractions may cause thickening and overcurvature of the nail.

Biopsy↗

An unusual case of ectodermal dysplasia.

The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.

Child, Preschool↗

Nail dystrophy in congenital cutaneous candidiasis.

Congenital cutaneous candidiasis (CCC) is usually a benign condition characterized by various skin manifestations and is rarely associated with nail changes. We report a premature infant with CCC who developed dystrophy of all 20 nails at about 1 month of age. Nail dystrophy due to Candida albicans in the young infant may be differentiated from other congenital or hereditary nail malformations by appearance, recovery of the organism in nail culture, and complete resolution over a period of several months.

Candidiasis, Cutaneous↗

[REEDY NAIL].

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Humans↗

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

The LIM-homeodomain protein Lmx1b plays a central role in dorso-ventral patterning of the vertebrate limb. Targeted disruption of Lmx1b results in skeletal defects including hypoplastic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NPS). We show that LMX1B maps to the NPS locus and that three independent NPS patients carry de novo heterozygous mutations in this gene. Functional studies show that one of these mutations disrupts sequence-specific DNA binding, while the other two mutations result in premature termination of translation. These data demonstrate a unique role for LMX1B in renal development and in patterning of the skeletal system, and suggest that alteration of Lmx1b/LMX1B function in mice and humans results in similar phenotypes. Furthermore, we provide evidence for the first described mutations in a LIM-homeodomain protein which account for an inherited form of abnormal skeletal patterning and renal failure.

Amino Acid Sequence↗

Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata.

Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.

Adult↗

"Ingrown" nails and other toenail problems--surgical treatment.

Appropriate office treatment for "ingrown" or deformed toenails can bring quick and lasting relief. The principle is the removal of the portion of the nail that irritates. For mild problems, a buried nail corner or spur may be successfully trimmed away without anesthesia. More extensive infection requires a nerve block anesthetic of the toe and removal of a wide triangle of deformity with nail edge and the mass of heaped up granulations. Chronic or recurrent infection is often associated with some abnormality of the nail. It usually saves time and suffering in the long run to remove a third or so of the width of the nail together with its matrix or "root." Sharp dissection is relatively easy and far more dependable than other methods of removal or destruction of the matrix. The matrix of the entire nail can be removed just as easily to eliminate such problems as the grossly thickened nail of onychogryphosis.

Anesthesiology↗