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Clin Dysmorphol. 2002 Jul;11(3):171-3.
Twenty-nail dystrophy in a mother and her 7-year-old daughter associated with balanced translocation 46, XX, t(6q13;10p13).

Balci S, Kanra G, Aypar E, Son YA.

Department of Pediatrics, Hacettepe University Ihsan Dogramc Children's Hospital, Ankara, Turkey.

Twenty-nail dystrophy (TND) is an autosomal dominantly inherited idiopathic nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on nails with a typical 'sand papered' rough appearance. It is evident at birth and progresses slowly. It can also be associated with various diseases including lichen planus, alopecia areata, eczema, vitiligo and psoriasis. Peripheral blood chromosome analysis has not been performed in previously reported cases of TND. We report a mother and her 7-year-old daughter with TND. Both of them had a balanced translocation 46, XX, t(6q13;10p13). This may be a coincidental finding or may be related to the gene locus of TND.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12072794&dopt=Abstract

Cutis. 2002 Apr;69(4):281-3.
Centrifugal lipodystrophy presenting with serpiginous erythema and alopecia.

Hagari Y, Ikehara A, Nuno K, Mihara M.

Department of Dermatology, Faculty of Medicine, Tottori University, Yonago, Japan. yohagarrape.med.tottori-u.ac.jp

We describe serpiginous erythema with alopecia developing on the scalp of a 10-year-old boy during follow-up of centrifugal lipodystrophy. Because the clinical and histopathologic features of these lesions were identical to those of centrifugal lipodystrophy, we conclude that involvement of a hairy region by this disorder could cause alopecia and that the hair loss might be an indirect effect of interstitial inflammatory infiltrates around the hair follicles and in the subcutaneous fat.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12080947&dopt=Abstract

J Perinatol. 2002 Jul-Aug;22(5):420-3.
Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point.

Choo S, Teo SH, Tan M, Yong MH, Ho LY.

Department of Neonatology, Singapore General Hospital, Singapore, Singapore.

We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12082482&dopt=Abstract

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