ABSTRACT
ABSTRACT Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.
RESUMO A tricotiodistrofia pertence a um grupo de doenças genéticas raras caracterizadas por anomalias da reparação do DNA. Manifestações oculares podem ocorrer em 50% dos casos, incluindo catarata, erros refrativos, estrabismo, microcórnea, microftalmia, olho seco e alterações maculares pigmentares. Relatamos um caso de glaucoma infantil em um paciente com tricotiodistrofia submetido à trabeculectomia no olho esquerdo. No nosso conhecimento, este é o primeiro caso descrito de glaucoma infantil associado à tricotiodistrofia.
Subject(s)
Humans , Male , Child , Eye Abnormalities/diagnosis , Glaucoma/diagnosis , Trichothiodystrophy Syndromes/diagnosis , Telangiectasis/diagnosis , Trabeculectomy , Eye Abnormalities/surgery , Glaucoma/surgery , Erythema/diagnosis , Intraocular PressureABSTRACT
Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.
Subject(s)
Humans , Male , Child, Preschool , Abnormalities, Multiple/diagnosis , Trichothiodystrophy Syndromes/diagnosis , Ichthyosis/diagnosis , Intellectual Disability/diagnosis , Photosensitivity Disorders/complications , Trichothiodystrophy Syndromes/complications , Ichthyosis/complications , Intellectual Disability/complicationsABSTRACT
Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.
Subject(s)
Humans , Biomedical Research , Methods , Cockayne Syndrome , Genetics , DNA Damage , DNA Repair , Genetics , Genetic Predisposition to Disease , Genetics , Skin , Metabolism , Pathology , Radiation Effects , Trichothiodystrophy Syndromes , Genetics , Ultraviolet Rays , Xeroderma Pigmentosum , GeneticsABSTRACT
Trichothiodystrophy is a rare autosomal recessive disorder and it is caused by reduced levels of high-sulfur amino acids and most particularly cystine in hair shafts. The patients with trichothiodystrophy show a broad range of clinical phenotypes from only hair involvement to multisystem abnormalities. A 7-year-old girl visited the clinic with a complaint of short, sparse and slow-growing hair, which had been presented since birth. The patient's hair showed characteristic dark and light banding, which gave a "tiger tail" appearance under light microscopy, and polarization and cuticular degeneration were seen under the scanning microscopy. Evaluation of the mineral density in the patient's hair shaft showed a low level of sulfur. We herein report on a case of trichothiodystrophy with sulfur-deficiency in the hair shafts.
Subject(s)
Child , Humans , Amino Acids , Cystine , Hair , Light , Microscopy , Parturition , Phenotype , Sulfur , Trichothiodystrophy SyndromesABSTRACT
We describe a case of trichothiodystrophy occuring as an isolated disorder. A 19-year old man has had sparse and brittle hair since birth. Physical examination and routine laboratory tests revealed an otherwise healthy man of normal intelligence. Microscopic observation of the hair under polarized light showed typical alternation of bright and dark bands(tiger-tail pattern). Scanning electron microscopy showed trichoshisis(transverse fractures through hair shaft), incomplete or absent cuticles, brush breaks weathering of the hair and trichonodosis.