Onychogryphosis in tuberous sclerosis complex: an unusual feature*
نویسندگان
چکیده
Onychogryphosis is an acquired nail plate change. It often affects the toenail and is characterized by an opaque, yellow-brownish nail plate that is distorted, grossly thickened, elongated, and partly curved resembling a ram's horn. Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or seizures. Nail disease can also be associated, which is a concern to patients due to pain and nail distortion. We reported a typical tuberous sclerosis complex patient with distinctive clinical features of a ram's horn nails, which presented a great challenge to surgical treatment and nail restoration.
منابع مشابه
A Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report
Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...
متن کاملCardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia
Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex. Despite the fact that thyroid dysfunction rarely occurs in tuberous sclerosis, papillary adenomas (hamartomas) of the thyroid gland have been reported in a number of autopsies. Herein, we present the case ...
متن کاملTuberous sclerosis complex: a review of neurological aspects.
Tuberous sclerosis complex is characterized by hamartomatous lesions involving skin, brain, kidneys, eyes and heart. Pathologically, tuberous sclerosis is a disorder of cell migration, proliferation and differentiation. Cell lineage and cell migration disorders in the developing cortex of tuberous sclerosis complex patients might produce very different neurological phenotypes including epilepsy...
متن کاملTherapeutic targeting of mTOR in tuberous sclerosis.
Failure in the regulation of mTOR (mammalian target of rapamycin) appears to be critical to the pathogenesis of the inherited disorder tuberous sclerosis and the related lung disease LAM (lymphangioleiomyomatosis). Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1-TSC2 complex for Rheb, lead...
متن کاملAssociation of Pemphigus Vulgaris and Tuberous Sclerosis: A case report
Pemphigus vulgaris is a blistering autoimmune disease with suprabasal cleft formation, which is the most common autoimmune blistering disease in eastern countries, such as Middle East. Predisposition to pemphigus is linked to genetic factors. Tuberous sclerosis is also a genetic disorder of hamartoma formation in many organs, particularly the skin, brain, eye, kidney and heart. We report ...
متن کامل