Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure

doi:10.1016/S0190-9622(84)70169-1

Journal of the American Academy of Dermatology

Volume 11, Issue 2, Part 2, August 1984, Pages 340-346

https://doi.org/10.1016/S0190-9622(84)70169-1 Get rights and content

A 16-year-old male patient had a syndrome that included growth retardation, mental retardation, hair shaft abnormalities, neurosensory hearing loss, contractures of the fifth fingers, ultraviolet B (UVB) photosensitivity, small testicular size, and elevated levels of follicle-stimulating hormone. Reduced hair sulfur content and a characteristic pattern of light and dark birefringent bands, seen when hairs were viewed with polarization microscopy, were typical of the low-sulfur hair syndrome. UVB photosensitivity and testicular failure have not previously been identified as components of this syndrome.

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Cited by (23)

The genetics of hair shaft disorders
2008, Journal of the American Academy of Dermatology
Citation Excerpt :
TTD is a heterogeneous disorder with a list of more than 100 variable features.35 Eight subgroups have been categorized by Itin et al35 and include BIDS (brittle hair, intellectual impairment, decreased fertility, and short stature), IBIDS (BIDS + ichthyosis), PIBIDS (BIDS + photosensitivity), SIBIDS (otosclerosis + IBIDS), ONMR (onychotrichodysplasia, chronic neutropenia, and mentral retardation), and Tay, Sabinas, and Pollitt syndromes.35,39-53 Trichoschisis is characteristically seen on light microscopy.
Many of the genes causing hair shaft defects have recently been elucidated. This continuing medical education article discusses the major types of hair shaft defects and associated syndromes and includes a review of histologic features, diagnostic modalities, and findings in the field of genetics, biochemistry, and molecular biology. Although genetic hair shaft abnormalities are uncommon in general dermatology practice, new information about genetic causes has allowed for a better understanding of the underlying pathophysiologies.
At the conclusion of this article, the reader should be familiar with the clinical presentation and histologic characteristics of hair shaft defects and associated genetic diseases. The reader should be able to recognize disorders with hair shaft abnormalities, conduct appropriate referrals and order appropriate tests in disease evaluation, and select the best treatment or supportive care for patients with hair shaft defects.
Trichothiodystrophy: Update on the sulfur deficient brittle hair syndromes
2001, Journal of the American Academy of Dermatology
Trichothiodystrophy (TTD) refers to a heterogeneous group of autosomal recessive disorders that share the distinctive features of short, brittle hair and an abnormally low sulfur content. Within the spectrum of the TTD syndromes are numerous interrelated neuroectodermal disorders. The TTD syndromes show defective synthesis of high-sulfur matrix proteins. Abnormalities in excision repair of ultraviolet (UV)-damaged DNA are recognized in about half of the patients. Three distinct autosomal recessive syndromes are associated with nucleotide excision repair (NER) defects: the photosensitive form of TTD, xeroderma pigmentosum, and Cockayne syndrome. The unifying feature of these conditions is exaggerated sensitivity to sunlight and UV radiation. In contrast to patients with xeroderma pigmentosum, no increase of skin cancers in patients with TTD has been observed. Genetically, 3 complementation groups have been characterized among photosensitive patients with TTD. Most patients exhibit mutations on the two alleles of the XPD gene. Rarely, mutated XPB gene or an unidentified TTD-A gene may result in TTD. In UV-sensitive TTD, the TFIIH transcription factor containing XPB and XPD helicase activities necessary for both transcription initiation and DNA repair is damaged. Beyond deficiency in the NER pathway, it is hypothesized that basal transcription may be altered leading to decreased transcription of specific genes. Depressed RNA synthesis may account for some clinical features, such as growth retardation, neurologic abnormalities, and brittle hair and nails. Therefore the attenuated expression of some proteins in differentiated cells is most likely explained by a mechanism distinct from DNA repair deficiency. The first transgenic mouse models for NER deficiencies have been generated. The TTD mouse as well as related cell models will provide important tools to understand the complex relationships between defects in DNA repair, low-sulfur hair shaft disorders, and the genotype-phenotype correlates for this constellation of inherited disorders, including the lack of predisposition to cancer in patients with TTD. (J Am Acad Dermatol 2001;44:891-920.) Learning objective: At the completion of this learning activity, participants will have a current understanding of the expanded and further defined clinical spectrum of the TTD syndromes. Participants will have gained new insight into the genetic and molecular characteristics and causes for the low-sulfur hair disorders.
Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis
1993, Journal of the American Academy of Dermatology
Three new unrelated cases of PIBIDS (Photosensitivity, Ichthyosis, Brittle, sulfur-deficient hair [trichothiodystrophy], Impaired intelligence, Decreased fertility, and Short stature) are reported. Decreased survival of skin fibroblast lines after UVB exposure was found. All three male patients had hypogonadism and primary end-organ gonadal failure. Striking osteosclerosis was present in all three patients. To the best of our knowledge the third patient is the first reported case of a black man with PIBIDS.
Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
1990, Journal of the American Academy of Dermatology
Trichothiodystrophy appears to represent a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. Our review of the literature revealed extensive associated findings in trichothiodystrophy. Classification of patients with trichothiodystrophy and other dysplasias is difficult because diminution of sulfur-rich protein in hair is not a sufficient marker to allow precise differentiation, although several similar ectodermal dysplasias can be excluded by demonstration of abnormal sulfur content in hair of patients with trichothiodystrophy. Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects. Detection of low-sulfur brittle hair syndrome is also important for genetic counseling because the disease appears to be inherited in an autosomal recessive pattern.
General evaluation of the patient with alopecia
1987, Dermatologic Clinics
PIBI(D)S syndrome—trichothiodystrophy with xeroderma pigmento sum (group D) mutation
1987, Journal of the American Academy of Dermatology
An autosomal recessive syndrome is described that associates extreme photosensitivity with a defect of the deoxyribonucleic acid (DNA) excision repair system, mild noncongenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, neurologic disorders, and short stature. A curious very sociable behavior, cataract and retinal dystrophy, recurrent infections, and unusual face are additional features. Fertility may be decreased. This syndrome is related to xeroderma pigmentosum complementation group D but differs from it in the absence of skin tumors, at least in the first two decades of life. (J Am Acad Dermatol 1987;16:940-7.)

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^*: Present address: Laboratory of Investigative Dermatology, Rockefeller University, New York, NY 10021

View full text

Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure

J Invest Dermatol

J Am Acad Dermatol

J Pediatr

J Pediatr

J Pediatr

“Brittle” hair with short stature, intellectual impairment and decreased fertility: An autosomal recessive syndrome in an Amish kindred

Pediatrics

The physiochemical properties of hair in the BIDS syndrome

Am J Hum Genet

Trichothiodystrophy

Arch Dermatol

Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)

Br J Dermatol