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>

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 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.

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.

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 Efficacy of the Radiotherapy on Darier’s Disease: An Indirect Evidence

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Ala Podgornii ◽  
Patrizia Ciammella ◽  
Dafne Ramundo ◽  
Cinzia Iotti
Keyword(s):  
Breast Cancer ◽  
Radiation Therapy ◽  
Local Control ◽  
Autosomal Dominant ◽  
Indirect Evidence ◽  
Skin Lesions ◽  
Linear Pattern ◽  
The Third ◽  
Darier’S Disease ◽  
Darier's Disease

Darier’s disease (DD) is an autosomal dominant dermatosis characterized by hyperkeratotic papules that are mainly located in the seborrheic areas and pushups, handheld wells, and nails. The disease often appears at a young age, typically by the third decade, with no sex predilection. There is currently no standard therapy and there are usually topical palliative therapies. We present the case of an affected 42-year-old woman treated with radiation therapy for early breast cancer. Before the radiotherapy, the patient showed hyperkeratotic, brownish papules extending in a linear pattern for the neck to the abdomen, especially on both breasts and inframammary area. During the radiation, she developed grade 1 to 2 dermatitis in the irradiated area. At a followup of 6 months, the patient has no skin lesions in the irradiated zone. This report suggests that the radiotherapy is not contraindicated and may indeed be effective in local control of skin lesions in DD.

scholarly journals A Rare Clinical Presentation of Intraoral Darier's Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
K. G. D. Manoja ◽  
B. S. M. S. Siriwardena ◽  
P. R. Jayasooriya ◽  
D. J. L. Siriwardane ◽  
W. M. Tilakaratne
Keyword(s):  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Skin Lesions ◽  
Keratosis Follicularis ◽  
Dental Examination ◽  
Darier’S Disease ◽  
Dyskeratosis Follicularis ◽  
Darier's Disease ◽  
Adult Male Patient ◽  
Head Neck

Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules primarily affecting seborrheic areas on the head, neck, thorax, and less frequently the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions present as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains.” This paper reports a case of an adult male patient who presented with painful whitish lesions on buccal mucosa with crusty lips as the only clinical sign of Darier's disease. As this patient did not have skin lesions or family history, an intraoral biopsy confirmed the diagnosis of Darier's disease by a multidisciplinary team.

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