title: Short stature with congenital ichthyosis.
abstract: 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.
authors.affiliation: Department of Dermatology, Sumandeep Vidyapeeth, Vadodara, Gujarat, India.
authors.forename: Som J
authors.initials: SJ
authors.lastname: Lakhani
authors.affiliation: Department of Endocrinology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Om J
authors.initials: OJ
authors.lastname: Lakhani
mesh_terms: D000293:Adolescent; D002648:Child; D002762:Cholecalciferol / Q000627:therapeutic use; D003241:Consanguinity; D004643:Emollients / Q000627:therapeutic use; D006130:Growth Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D006201:Hair Diseases / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007057:Ichthyosis / Q000188:drug therapy; D008297:Male; D010787:Photosensitivity Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D035781:Siblings; D013473:Sunscreening Agents / Q000627:therapeutic use; D054463:Trichothiodystrophy Syndromes / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D014808:Vitamin D Deficiency / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D014815:Vitamins / Q000627:therapeutic use
chemical_list: D004643:Emollients; D013473:Sunscreening Agents; D014815:Vitamins; D002762:Cholecalciferol