TRICHOTHIODYSTROPHY AND ASSOCIATED ANOMALIES - A VARIANT OF SIBIDS OR NEW SYMPTOM COMPLEX

被引：13

作者：

HERSH, JH

KLEIN, LR

JOYCE, MR

HORDINSKY, MK

TSAI, MY

PALLER, A

HYZER, R

ZAX, RH

机构：

[1] Division of Dermatology, Kosair Children's Hospital, University of Louisville, Louisville, Kentucky

[2] Division of Pediatric, Kosair Children's Hospital, University of Louisville, Louisville, Kentucky

[3] Departments of Dermatology, University of Minnesota, Minneapolis, Minnesota

[4] Departments of Biochemical Genetics, University of Minnesota, Minneapolis, Minnesota

[5] Division of Dermatology, Children's Memorial Hospital, Northwestern University, Chicago, Illinois

来源：

PEDIATRIC DERMATOLOGY | 1993年 / 10卷 / 02期

关键词：

D O I：

10.1111/j.1525-1470.1993.tb00034.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Trichothiodystrophy is characterized by sparse, short, sulfur-deficient hair. Numerous symptom complexes have been described in which the hair abnormality represents a constant feature. We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidism, nystagmus, growth and mental retardation, and microcephaly, who developed a progressive encephalopathy with ataxia and optic atrophy at 2.5 years of age. In addition to a deficient cystine level identified on a hair sample, a disturbance in the composition of other amino acids was present. Although features were reminiscent of osteosclerosis, ichthyosis, brittle hair due to trichothiodystrophy, impaired intelligence, decreased fertility, and short stature (SIBIDS) and could represent a variant of this disorder, findings in our patient may reflect a new trichothiodystrophy symptom complex that carries a poor prognosis for survival beyond childhood.

引用

页码：117 / 122

页数：6

共 24 条

[1]

Price VH, Odom RB, Ward WH, Jones FT, Trichothiodystrophy: sulfur‐deficient brittle hair as a marker of a neuroectodermal symptom complex, Arch Dermatol, 116, pp. 1375-1384, (1980)

[2]

Itin PH, Pittelow MR, Trichothiodystrophy: review of sulfur‐deficient brittle hair syndromes and association with the ectodermal dysplasias, J Am Acad Dermatol, 22, pp. 705-717, (1990)

[3]

Chapman S, The trichothiodystrophy syndrome of Pollitt, Pediatr Radiol, 18, pp. 154-156, (1988)

[4]

Leupold D, Ichthyosis congenita, katarakt, schwachsinn, ataxie, osteosklerose, und abwehrdefektein eigenstandiges syndrom, Monatsschr Kinderheilkd, 127, pp. 307-308, (1979)

[5]

Cantu J-M, Arias J, Foncerada M, Et al., Syndrome of onychotrichodysplasia with chronic neutropenia in an infant from consanguineous parents, Birth Defects, 11, 2, pp. 63-66, (1975)

[6]

Hernandez A, Olivares F, Cantu J-M, Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation, Delineation of the syndrome, Clin Genet, 15, pp. 147-152, (1979)

[7]

Verhage J, Habbema L, Vrensen GFJM, Roord JJ, Bleeker‐Wagemakers EM, A patient with onychotrichodysplasia, neutropenia and normal intelligence, Clin Genet, 31, pp. 374-380, (1987)

[8]

Itin PH, Pittelow MR, Trichothiodystrophy with chronic neutropenia and mild mental retardation, J Am Acad Dermatol, 24, pp. 356-358, (1991)

[9]

Przedborski S, Ferster A, Goldman S, Et al., Trichothiodystrophy, mental retardation, short stature, ataxia and gonadal dysfunction in three Moroccan siblings, Am J Med Genet, 35, pp. 566-573, (1990)

[10]

Norwood WF, The Marinesco‐Sjögren syndrome, J Pediatr, 65, pp. 431-437, (1964)

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