Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

Douzgou, Sofia; Mingarelli, Rita; Dallapiccola, Bruno

doi:10.1097/mcd.0b013e32832dc393

Cited by 14 publications

(10 citation statements)

References 17 publications

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“…Apart from diaphragmatic hernia, genital disorders in females and pulmonary cysts, deletion producing MCA also include renal cysts which can cause obstruction/ hydronephrosis (15). Another rare form of CGHT with gingival hyperplasia was previously described showing AR mode of inheritance (11,12,16). DeStefano et al identifi ed two girls with CGHT.…”

Section: Discussionmentioning

confidence: 99%

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

Kazandjieva

Stefanova

Todorova

et al. 2016

Serbian Journal of Dermatology and Venereology

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Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and defi nitively in the literature. Recent articles identifi ed congenital generalized hypertrichosis terminalis as a genomic disorder. This report is a follow up of a six-year-old boy born from the fi rst normal pregnancy of non-consanguineous parents, starting from delivery. Our investigation revealed a history of: excessive hair growth and a coarse face from birth; increased body weight with high blood pressure and gingival hyperplasia at the age of four months. The parents denied any medication or chemical intake during pregnancy, as well as a history of hypertrichosis in their families. The child had a congenital hydronephrosis of the right kidney. Ultrasound and magnetic resonance imaging revealed severe congenital hydronephrosis of the right kidney and suspicion of hypertrophy of the left adrenal gland suggestive of an adenoma. The follow up showed normal values of hormones which excluded adrenal tumor. At the age of 8 months the patient underwent right-sided nephrectomy after several urinary infections. The child was admitted again to our Clinic at the age of four years, with generalized hypertrichosis, gingival hyperplasia and a coarse face without any other pathological signs. He has had a normal intellectual development, but was extremely shy, unconfi dent and dependent on his mother. The relevant laboratory investigations showed normal full blood count, biochemical, hormonal test results and normal function of the single kidney. Molecular chromosome analysis revealed heterozygous deletion on chromosome 17q12 region. Prolonged follow-up with routine checkups every 6-12 months was advised, including regular outpatient appointments particularly with an endocrinologist, because of the risk of diabetes mellitus, and with a nephrologist, for control of renal function. Laser hair removal was suggested and the patient under...

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Section: Discussionmentioning

confidence: 99%

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

Kazandjieva

Stefanova

Todorova

et al. 2016

Serbian Journal of Dermatology and Venereology

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“…Because of the syndrome’s overlapping, due to genetic heterogeneity, there are few references in the worldwide literature that combine two or more syndromes. In a case report, HGF, generalized hypertrichosis, mental retardation, and epilepsy are considered to resemble to Zimmermann–Laband, Ramon, and Cantu syndromes 12 …”

Section: Pathogenesismentioning

confidence: 99%

Current concepts on gingival fibromatosis‐related syndromes

Poulopoulos

Kittas

Sarigelou

2011

J of Invest & Clin Dent

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Gingival fibromatosis is a rare, benign, slowly-growing fibrous overgrowth of the gingiva, with great genetic and clinical heterogeneity. Gingival fibromatosis/overgrowth can be inherited as an isolated trait (hereditary gingival fibromatosis) and/or as a component of a syndrome, or it can be drug induced. As a clinical manifestation of a syndrome, gingival fibromatosis is usually associated with generalized hypertrichosis, mental retardation, or epilepsy. Gingival fibromatosis and its related syndromes are mainly inherited in an autosomal-dominant manner, but autosomal-recessive inheritance has also been reported. Clinical syndromic presentation includes Zimmermann-Laband syndrome, Ramon syndrome, Rutherford syndrome, Cowden syndrome, Cross syndrome, Göhlich-Ratmann syndrome, Avani syndrome, and I-cell disease. However, a phenotypic overlap has been suggested, as many combinations of their systemic manifestations have been reported. Treatment of choice is usually gingivectomy with gingivoplasty. Before any therapy, clinical practitioners must take into consideration the clinical course of a particular syndrome and every possible functional and esthetic disorder.

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“…Others have reported diabetes mellitus, vascular skin lesions and ocular abnormalities as part of Ramon syndrome [12,21,22]. Interestingly, the combination of epilepsy, mental retardation, hypertrichosis and GF are defined as idiopathic or HGF [8,18,19,[28][29][30][31]. Other phenotypic expressions like giant cell tumor and osteofibrosis are also known to occur in HGF [19].…”

Section: Discussionmentioning

confidence: 98%

Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

Suhanya

Aggarwal

Mohideen

et al. 2009

Head and Neck Pathol

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Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.

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Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

Cited by 14 publications

References 17 publications

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

Current concepts on gingival fibromatosis‐related syndromes

Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

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