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 ◽  
◽  
...  

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

2018 ◽  
Vol 10 (1) ◽  
pp. 82-88
Author(s):  
Kallapan Pakornphadungsit ◽  
Poonkiat Suchonwanit ◽  
Tueboon Sriphojanart ◽  
Pamela Chayavichitsilp

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.


2011 ◽  
Vol 4 ◽  
pp. CMAMD.S7035 ◽  
Author(s):  
M.A. Aghdashi ◽  
M.M. Aghdashi ◽  
M. Rabiepoor

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.


2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
D. W. V. N. Dissanayaka ◽  
D. K. B. Dassanayaka ◽  
P. R. Jayasooriya

Trichoepitheliomas (TE) are benign skin tumours of the pilosebaceous apocrine unit with follicular differentiation. Multiple familial trichoepithelioma (MFT) is a considerably rare condition inherited in an autosomal dominant pattern. We present a case of a 15-year-old male who presented with multiple papulo-nodular lesions in the central face and a family history of a similar type of lesions from his mother. Significance of consideration of various clinical differential diagnoses with serious pathological outcomes, strategies followed in the diagnosis including histopathological evaluation aided by immunohistochemical investigations, and subsequent challenges that may be faced in the management of MFT in light of the presentation with multiple facial papules are documented in this case report.


2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.


2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  

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.


2005 ◽  
Vol 129 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Shveta Mehra ◽  
Moonja Chung-Park

Abstract We report a case of gallbladder paraganglioma that was discovered during nonrelated surgery. Retrospective study disclosed a family history of pheochromocytoma. The occurrence of gallbladder paraganglioma in the presence of family history of endocrine neoplasia supports that gallbladder paraganglioma may indeed occur as a part of the multiple endocrine neoplasm syndrome. Gallbladder paraganglioma is a rare tumor, and so far to our knowledge only 6 cases have been reported in the literature. Three cases were discovered incidentally during cholecystectomy for cholelithiasis, 2 presented with right upper quadrant pain, and 1 manifested with gastrointestinal bleeding. We herein review all reported cases of paraganglioma of gallbladder and biliary system.


2019 ◽  
Vol 22 (3-4) ◽  
pp. 86-92
Author(s):  
O. V Grabovskaya ◽  
N. P Teplyuk ◽  
Yuliya V. Kolesova

The review of the literature on epidemiology, pathogenesis, diagnosis and treatment methods for chronic familial benign pemphigus Gougerot-Haley-Haley, as well as a clinical case of a patient with this disease with family history are presented. The manifestation of the disease occurred at the age of 24, after childbirth. Later there were numerous relapses. Remission was quickly achieved after treatment with antibiotics and oxygen-ozone therapy. In recent years, there has been an increase in the frequency of exacerbations of the disease, and a decrease in treatment effectiveness.


Neurosurgery ◽  
1983 ◽  
Vol 13 (6) ◽  
pp. 692-694
Author(s):  
Nancy E. Epstein ◽  
Alan D. Rosenthal ◽  
Jay Selman ◽  
Michael Osipoff ◽  
Roger A. Hyman

Abstract Intracranial gliomas are found in association with von Recklinghausen's neurofibromatosis. However, few truly neonatal lesions have been identified and studied. This case report concerns a 4-month-old child who was found to have a massive thalamic glioma of moderate grade. Four paternal generations had suffered from different manifestations of this transmissible autosomal-dominant (Ad) phakomatosis.


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

2014 ◽  
Vol 67 (3-4) ◽  
pp. 109-110
Author(s):  
Olgica Milankov ◽  
Radojica Savic ◽  
Anica Radulovic

Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ? month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy?s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.


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