ABSTRACT
Photodermatoses associated with defective DNA repair are a group of photosensitive hereditary skin disorders. In this review, we focus on diseases and syndromes with defective nucleotide excision repair that are not accompanied by an increased risk of cutaneous malignancies despite having photosensitivity. Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed. These conditions may also have other extracutaneous involvement affecting the neurologic system and growth and development. Rigorous photoprotection remains an important component of the management of these inherited DNA repair-deficiency photodermatoses.
Subject(s)
DNA Repair-Deficiency Disorders/genetics , Photosensitivity Disorders/genetics , Cockayne Syndrome/epidemiology , Cockayne Syndrome/genetics , Cockayne Syndrome/therapy , DNA Adducts , DNA Repair-Deficiency Disorders/epidemiology , Disease Management , Genetic Predisposition to Disease , Humans , Mutagenesis , Phenotype , RNA Polymerase II/metabolism , Radiation Tolerance/genetics , Transcription, Genetic , Trichothiodystrophy Syndromes/epidemiology , Trichothiodystrophy Syndromes/genetics , Trichothiodystrophy Syndromes/therapy , Ultraviolet Rays/adverse effects , Xeroderma Pigmentosum/geneticsABSTRACT
PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.
Subject(s)
Consanguinity , Siblings , Trichothiodystrophy Syndromes/diagnosis , Adolescent , Child , Cholecalciferol/therapeutic use , Emollients/therapeutic use , Growth Disorders/diagnosis , Growth Disorders/drug therapy , Growth Disorders/etiology , Hair Diseases/diagnosis , Hair Diseases/etiology , Humans , Ichthyosis/drug therapy , Male , Photosensitivity Disorders/diagnosis , Photosensitivity Disorders/drug therapy , Photosensitivity Disorders/etiology , Sunscreening Agents/therapeutic use , Trichothiodystrophy Syndromes/complications , Trichothiodystrophy Syndromes/therapy , Vitamin D Deficiency/complications , Vitamin D Deficiency/diagnosis , Vitamin D Deficiency/drug therapy , Vitamins/therapeutic useSubject(s)
Abnormalities, Multiple/diagnosis , Hair/ultrastructure , Trichothiodystrophy Syndromes/diagnosis , Child, Preschool , Developmental Disabilities/diagnosis , Developmental Disabilities/therapy , Female , Guatemala , Hair/abnormalities , Humans , Ichthyosis/drug therapy , Ichthyosis/physiopathology , Monitoring, Physiologic , Photosensitivity Disorders/diagnosis , Photosensitivity Disorders/genetics , Prognosis , Rare Diseases , Trichothiodystrophy Syndromes/therapyABSTRACT
The clinical presentation of trichothiodystrophy type F includes photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature, often referred to as the PIBIDS syndrome. While many of these patients demonstrate features also found in xeroderma pigmentosum patients, including similar nucleotide excision repair gene defects and photosensitivity, PIBIDS patients rarely demonstrate cutaneous malignancies. This case report demonstrates the rare presentation of squamous cell carcinoma developing in a PIBIDS patient.