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.

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 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.

Meniere's Syndrome and Migraine: Incidence in one Family

1997 ◽  
Vol 106 (10) ◽  
pp. 823-829 ◽  
Author(s):  
Carlos A. Oliveira ◽  
Roberta L. Bezerra ◽  
Mercedes F. Araújo ◽  
Vanessa F. Almeida ◽  
Christiane I. Messias
Keyword(s):  
Autosomal Dominant ◽  
Family Members ◽  
Meniere’S Disease ◽  
Ménière’S Disease ◽  
Genetic Determinant ◽  
Genetic Transmission ◽  
Autosomal Dominant Pattern ◽  
Standard Questionnaire ◽  
Dominant Pattern ◽  
Ménière's Disease

Since 1992, we have applied a standard questionnaire to all our Meniere's syndrome patients. We ask about other family members affected by the symptoms and about the presence of the usual migraine symptoms. Through this questionnaire we have identified a family that has some members affected by Meniere's syndrome alone, some others with associated migraine, and still others with migraine alone. Two members of this family started out with migraine and later in life developed Meniere's syndrome. The genetic transmission follows an autosomal dominant pattern for both Meniere's syndrome and migraine. We have interviewed and studied 19 affected persons from several generations of this family, who form the basis of this report. The possibility of a common autosomal dominant genetic determinant for Meniere's syndrome and migraine and its implications for the causation of Meniere's disease are discussed.

scholarly journals Multiple Non- Familial Trichoepitheliomas in a NineYear Child

2019 ◽  
Vol 17 (1) ◽  
pp. 76-78
Author(s):  
Samriti Sood ◽  
Mudita Gupta ◽  
Reena Kumari Sharma ◽  
Manju Rao
Keyword(s):  
Autosomal Dominant ◽  
Family Members ◽  
The Other ◽  
Autosomal Dominant Pattern ◽  
Multiple Lesions ◽  
Dominant Pattern ◽  
Sporadic Cases ◽  
Poorly Differentiated ◽  
Benign Tumours

Trichoepitheliomas are rare benign tumours of poorly differentiated trichogenic origin. They present as translucent lesions most commonly on centrofacial regions. Solitary lesions are seen in sporadic cases while multiple lesions are inherited in autosomal dominant pattern. We present a 9 year old child with multiple trichoepitheliomas  at classical sites with  none of the other  family members involved.

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 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>

Familial achalasia with an autosomal dominant pattern of inherence: Report of a Vietnamese family

MedPharmRes ◽  
2019 ◽  
Vol 3 (2) ◽  
pp. 25-28
Author(s):  
Trong Duc Quach ◽  
Yuji Urabe ◽  
Toru Hiyama
Keyword(s):  
Genetic Predisposition ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Autosomal Dominant Pattern ◽  
Three Generations ◽  
Dominant Pattern ◽  
Autosomal Recessive Pattern

Current pathophysiologic knowledge of achalasia suggests the important involvement of genetic predisposition. However, familial achalasia is very rare and most of the case reports in literature have shown an autosomal recessive pattern of inherence. We hereby report a case of familial achalasia with autosomal dominant pattern of inherence affecting ten members in three generations of a Vietnamese family.

scholarly journals Sclerosing Stromal Tumor of Ovary: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Menka Khanna ◽  
Ashish Khanna ◽  
Mridu Manjari
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Young Woman ◽  
Pelvic Pain ◽  
Malignant Tumor ◽  
Stromal Tumor ◽  
Ca 125 ◽  
Hormonal Status ◽  
Sclerosing Stromal Tumor ◽  
Sex Cord Stromal Tumor

Sclerosing stromal tumor (SST) is an extremely rare and distinctive sex cord stromal tumor which occurs predominantly in the second and third decades of life. We report a case of a 32-year-old woman who developed a sclerosing stromal tumor of ovary and presented with irregular menstruation and pelvic pain. Her hormonal status was normal but CA-125 was raised. She was suspected to have a malignant tumor on computed tomography and underwent bilateral salpingo-oopherectomy. It is therefore necessary to keep in mind the possibility of sclerosing stromal tumor in a young woman.

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