scholarly journals Hereditary Leukonychia Totalis: A Case Report and Review of the Literature

2018 ◽  
Vol 10 (1) ◽  
pp. 82-88
Author(s):  
Kallapan Pakornphadungsit ◽  
Poonkiat Suchonwanit ◽  
Tueboon Sriphojanart ◽  
Pamela Chayavichitsilp
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Predisposing Factors ◽  
Systemic Diseases ◽  
Review Of The Literature ◽  
Autosomal Dominant Pattern ◽  
Nail Matrix ◽  
Dominant Pattern ◽  
Associated Conditions

Leukonychia is defined as white discoloration of the nails caused by an abnormal keratinization of the nail matrix. Congenital leukonychia totalis is a rare nail disorder, which is typically inherited in an autosomal dominant pattern. This condition can be presented as an isolated condition or in association with systemic diseases. We report a case of a 7-year-old Thai boy who developed asymptomatic white discoloration of all the nails since birth, with an absence of any predisposing factors or associated conditions.

Congenital Bilateral Shoulder Dimples in a Newborn Case report and Review of the literature

2020 ◽  
pp. 1-2
Author(s):  
Amin N A Soofi ◽  
◽  
Ola Abdelhadi ◽  
Abdelhadi Abdelhadi ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Family History ◽  
Cocaine Abuse ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Normal Range ◽  
Autosomal Dominant Pattern ◽  
New Born ◽  
Dominant Pattern ◽  
Normal Baby

Congenital Acromial or Shoulder dimples are cutaneous depressions overlying the acromial process of the scapula. They are usually bilateral and symmetrical. Isolated biacromial dimples are usually benign and warrant no further investigations. Family history in an autosomal dominant pattern, as in our case, is frequently obtainable but the majority of isolated bilateral shoulder dimples are sporadic. There are few reports of syndromic associations as well as two cases of associated maternal cocaine abuse. Our case is a term female neonate who was noted on routine new-born check to have bilateral symmetrical shoulder dimples. She was otherwise healthy, had normal range of shoulder movements and was not dysmorphic. On further assessment it transpired the father has the same bilateral shoulder dimples but was not aware of their existence. No further investigations were carried out. This case add to the few reported cases of Biacromial Dimples with autosomal pattern of inheritance in an otherwise normal baby

scholarly journals Osteopoikilosis: Pain as a Presenting Symptom in Three Family Members

2011 ◽  
Vol 4 ◽  
pp. CMAMD.S7035 ◽  
Author(s):  
M.A. Aghdashi ◽  
M.M. Aghdashi ◽  
M. Rabiepoor
Keyword(s):  
Case Report ◽  
Young Woman ◽  
Pelvic Pain ◽  
Autosomal Dominant ◽  
Family Members ◽  
Familial Occurrence ◽  
Autosomal Dominant Pattern ◽  
Dominant Pattern ◽  
Radiological Examinations

Osteopoikilosis is a rare asymptomatic sclerosing bony dysplasia of benign origin. It is usually found incidentally on radiological examinations. Familial occurrence indicates a genetic milieu with autosomal dominant pattern. Here, we present a case report of a young woman suffering from pelvic pain due to osteopoikilosis (OPK). The same disorder was later found in her son and daughter.

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Achalasia familiar: report of a family with an autosomal dominant pattern of inherence

2010 ◽  
Vol 24 (1) ◽  
pp. E1-E4 ◽  
Author(s):  
G. Gordillo-González ◽  
Y. P. Guatibonza ◽  
I. Zarante ◽  
P. Roa ◽  
L. A. Jacome ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Pattern ◽  
Dominant Pattern

scholarly journals Unusual Localisation for Onychomatricoma on the 5th Toenail: A Case Report and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
A. Coutellier ◽  
I. Théate ◽  
O. Vanhooteghem
Keyword(s):  
Case Report ◽  
Nail Plate ◽  
Benign Tumour ◽  
Unknown Aetiology ◽  
Review Of The Literature ◽  
Clinical Appearance ◽  
Unusual Location ◽  
Nail Matrix ◽  
Slow Progression ◽  
Fifth Toe

Onychomatricoma is a rare and benign tumour of the nail matrix but originates rarely from the ventral portion of the proximal nail fold. This tumour is characterised by fingerlike projections that invade the nail plate. This lesion, of unknown aetiology, is typically asymptomatic with slow progression. Localisation on the finger is the most frequently described. We report the case of a 68-year-old woman who has an onychomatricoma in an unusual location, the fifth toe of the left foot. Due to its clinical appearance, the tumour can be confused with and treated as onychomycosis. However, if it is resistant to an oral antifungal well behaved treatment, one must consider onychomatricoma diagnosis.

scholarly journals Renal cyst occurring in a case of Darier’s disease

2019 ◽  
Vol 5 (2) ◽  
pp. 427
Author(s):  
Vipul Paul Thomas ◽  
Sangiah Sivaramakrishnan ◽  
Jayakar Thomas
Keyword(s):  
Autosomal Dominant ◽  
Renal Cyst ◽  
Autosomal Dominant Pattern ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Dominant Pattern

<p>Darier’s disease is a rare genodermatosis inherited in an autosomal dominant pattern. The disease is characterised by chronic persistent hyperkeratotic papular eruptions over the seborrheic regions. </p>

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