scholarly journals A rare case report of progressive symmetric erythrokeratoderma in five generations of an Indian family

2018 ◽  
Vol 4 (3) ◽  
pp. 444
Author(s):  
Anil Kumar Gupta ◽  
Kanishk Utkarsh Kaushik ◽  
Sushantika . ◽  
Shivangi Sachan
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Indian Family ◽  
Rare Case Report ◽  
Successive Generations ◽  
Rare Group

<p>Erythrokeratoderma is a rare group of disorders of autosomal dominant inheritance characterised by localised erythema and hyperkeratosis. Within a broad spectrum of phenotypes atleast two are delineated: a) Erythrokeratoderma variabilis and b) Progressive symmetric erythrokeratoderma. Here we are reporting a case of progressive symmetric erythrokeratoderma in an Indian family where five successive generations were involved.</p>

scholarly journals A rare case report of emphysematous cyst infection in autosomal dominant polycystic kidney disease

2018 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
KrishanL Gupta ◽  
Jasmine Sethi ◽  
Raja Ramachandran ◽  
Vivek Kumar ◽  
Manish Rathi ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Cyst Infection ◽  
Rare Case Report ◽  
Autosomal Dominant Polycystic Kidney

Cherubism in a 12-year old Child; A Rare Case Report

2020 ◽  
Vol 12 (2) ◽  
pp. 39-42
Author(s):  
Dr. Mallayya C. Hiremath ◽  
Dr. SK. Srinath ◽  
Dr. Bineesh Balan ◽  
Dr. Sushma H S
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Growth Period ◽  
Individual Case ◽  
Radiographic Examination ◽  
Facial Deformity ◽  
Autosomal Dominant Disorder ◽  
Radiological Features ◽  
Rare Case Report

Cherubism is a non-neoplastic, fibro-osseous, self-limiting, autosomal dominant disorder of the jaws. It is also called as familial fibrous dysplasia and familial multi-locular cystic lesion of the jaws. Its typical dento-facial deformities are caused by mutations in the SH3BP2 gene. The lesion regresses during puberty and the disease stabilizes after the growth period. But it leaves some facial deformity along with disturbances in occlusion. Cherubism may occur as an individual case or in multiple members of the same family, oftenly in multiple generations. Radiographic examination of the lesion shows bilateral multi-locular radiolucent areas.The aim of this case report is to present a case of 12-years old cherubic child, with its clinical and radiological features and discussion about the clinical outcome.This patient was diagnosed with Cherubism and being followed up periodically.

scholarly journals Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae

1995 ◽  
Vol 53 (4) ◽  
pp. 799-801 ◽  
Author(s):  
Carolina A. R. Funayama ◽  
Marlene de F. Turcato ◽  
Renato Moura-Ribeiro ◽  
Gutemberg M. Rocha ◽  
João M. Pina Neto ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Chromic Acid ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Recurrent Meningitis ◽  
Anterior Sacral Meningocele

A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal dominant inheritance is demonstrated for lower cord malformation, and environmental factors (chromic acid or fumes) are discussed.

scholarly journals Multiple familial trichoepithelioma: A case report

2012 ◽  
Vol 6 (4) ◽  
pp. 64-68
Author(s):  
M Mathur ◽  
SK Kedia
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Medical Sciences

Trichoepithelioma are benign epidermal appendageal tumour with follicular differentiation. Tumor has been categorized into solitary, multiple and desmoplastic types. The multiple familial trichoepithelioma is autosomal dominant inheritance and rarely seen. Journal of College of Medical Sciences-Nepal,2011,Vol-6,No-4, 64-68 DOI: http://dx.doi.org/10.3126/jcmsn.v6i4.6731

scholarly journals C.487C>T mutation in PAX4 gene causes MODY9 – a case report and literature review

2020 ◽  
Author(s):  
Di Zhang ◽  
Wenli Yang ◽  
Li Ren ◽  
yanmei sang
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Monogenic Diabetes ◽  
Autosomal Dominant Inheritance ◽  
Maturity Onset Diabetes ◽  
Dominant Inheritance ◽  
Clinical Forms ◽  
Clinical Pictures

Maturity-onset diabetes of the young (MODY) is a group of monogenic diabetes characterized by an autosomal dominant inheritance. MODY is categorized by a large variety of clinical forms and is caused by a wide spectrum of mutations in MODY‑related genes that lead to different clinical pictures and require distinct treatment

scholarly journals FAMILIAL DYSKERATOTIC COMEDONES – A RARE CASE REPORT

2020 ◽  
pp. 27-27
Author(s):  
Sudheer Kumar S ◽  
Ram Kumar KR ◽  
Chenchaiah V ◽  
Venkata Ramana P
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Rare Disorder ◽  
Rare Case Report

Familial dyskeratotic comedones (FDC) is a rare autosomal dominant inherited condition, characterized by widespread, symmetrically scattered, comedone-like, hyperkeratotic papules, which are cosmetically unappealing. Lesions show a predilection to involve the trunk, arms and face and appear around puberty. The lesions are usually asymptomatic and worsen gradually with time. Histology shows invagination of the epidermis with a lamellar keratinous plug and focal evidence of dyskeratosis. This condition is generally refractory to therapy. We report here a case with this rare disorder.

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