scholarly journals Familial diffuse comedones, different entity or variant of familial dyskeratotic comedones: a case report

2020 ◽  
Vol 6 (5) ◽  
pp. 680
Author(s):  
Nandakishore Thokchom ◽  
Linda Kongbam ◽  
Nandita Bhattacharjee ◽  
Erika Salam
Keyword(s):  
Case Report ◽  
Skin Biopsy ◽  
Autosomal Dominant ◽  
Additional Finding ◽  
The Face

<p>Familial dyskeratotic comedones(FDC) is a rare autosomal dominant genodermatosis characterized by numerous comedones with dyskeratosis in histology. We report a case of 43-year-old woman and her 16-year-old daughter presenting with extensive diffuse comedones on the face, trunk and proximal extremities. Mild slate-grey pigmentation of face in the mother was an additional finding. Skin biopsy showed crateriform invagination with parakeratotic lamellae filled with keratinous material in the epidermis but no dyskeratosis or acantholysis. The case resembles FDC as described earlier. However, certain features like presence of hyperpigmentation and minimal hyperkeratotic papules, and absence of dyskeratosis or acantholysis may suggest that diffuse familial comedones exist as a different genodermatosis.</p>

scholarly journals Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

Revista CEFAC ◽  
2020 ◽  
Vol 22 (4) ◽  
Author(s):  
Geciane Xavier Torres ◽  
Emerson de Santana Santos ◽  
Carla Patrícia Hernandez Alves Ribeiro César ◽  
Roxane de Alencar Irineu ◽  
Isabel Ribeiro Rocha Dias ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Disease ◽  
Noonan Syndrome ◽  
Speech Therapy ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
The Face ◽  
Facial Type ◽  
Class Iv

ABSTRACT Noonan syndrome is an autosomal dominant genetic disease with different manifestations, including Speech, Language and Hearing Sciences ones. The authors describe the orofacial and myofunctional manifestations of an adolescent diagnosed with Noonan syndrome, by consulting the Speech, Language and Hearing Sciences record of a 17-year-old male patient, who underwent screening and speech therapy evaluation with a confirmed genetic diagnosis of Noonan syndrome. The results were qualitatively analyzed. The patient had a long facial type, with a disproportion between the lower and middle thirds of the face, ogival palate, and Mallampati class IV. A deficit in mobility and sensitivity of phonoarticulatory organs was also identified, absence of pathological oral and gag reflexes, decreased lip tone and tongue tension, increased speed chewing and inefficient grinding, functional swallowing for assessed consistencies, mild verbal and nonverbal apraxia, and moderate dysarthria. The results confirmed the presence of alterations in the speech-language organs, proving the relevance of the Speech, Language and Hearing Sciences evaluation in Noonan Syndrome, to allow adequate follow-up and treatment.

scholarly journals Progressive symmetrical erythrokeratodermia - Case report*

2013 ◽  
Vol 88 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Bianca de Mello Guaraldi ◽  
Thaís Jerez Jaime ◽  
Rafael de Mello Guaraldi ◽  
Daniel Fernandes Melo ◽  
Osvania Maris Nogueira ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Late Diagnosis ◽  
The Face ◽  
Variable Penetrance

Progressive symmetrical erythrokeratodermia is a rare autosomal dominant genodermatosis with variable penetrance described by Darier in 1911. It is characterized by erythematous and keratotic plaques, sharply defined and symmetrically distributed along the extremities, buttocks and, more rarely, on the face. We report a case of a 55-year-old patient with lesions on the dorsum of the hands, interphalangeal pads, wrists, groin and back feet. This case demonstrates a rare and late diagnosis, clinical profusion and presence of familiar involvement.

scholarly journals Cadasil - genetic and ultrastructural diagnosis: case report

2015 ◽  
Vol 9 (4) ◽  
pp. 428-432
Author(s):  
Julio Cesar Vasconcelos da Silva ◽  
Leila Chimelli ◽  
Felipe Kenji Sudo ◽  
Eliasz Engelhardt
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skin Biopsy ◽  
Autosomal Dominant ◽  
Transient Ischemic Attacks ◽  
Cerebral Vasculature ◽  
Ultrastructural Examination ◽  
Subcortical Dementia ◽  
Notch 3 ◽  
Negative Findings

ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient ischemic attacks that evolved to progressive subcortical dementia. Neuroimaging disclosed extensive leukoaraiosis and lacunar infarcts. The genetic analysis for NOTCH 3 was confirmatory. The ultrastructural examination of the skin biopsy sample, initially negative, confirmed the presence of characteristic changes (presence of granular osmiophilic material inclusions [GOM]), after the analysis of new sections of the same specimen. The present findings indicate that negative findings on ultrastructural examinations of biopsy should not exclude the diagnosis of the disease and that further analyses of the sample may be necessary to detect the presence of GOM.

scholarly journals Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma in the practice of a dermatologist: A case report

2021 ◽  
Vol 12 (e) ◽  
pp. e67-e67
Author(s):  
Igor Kuklin ◽  
Nikolay Kungurov ◽  
Natalia Zilberberg ◽  
Muza Kokhan ◽  
Galina Safonova ◽  
...  
Keyword(s):  
Case Report ◽  
T Cell ◽  
Skin Biopsy ◽  
Clinical Case ◽  
Cell Lymphoma ◽  
T Cell Lymphoma ◽  
Laboratory Examination ◽  
The Face ◽  
Immunohistochemical Methods ◽  
Immunohistochemical Studies

The article demonstrates a case of diagnosis of a rare variant of primary skin lymphoma, namely of primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma with an indolent course. The diagnosis of SMPTCL is based on the combination of the clinical picture, histological and immunomorphological data. A 70-year-old patient presented at the clinic with complaints about tumor-like formations on the skin of the face and back accompanied by moderate itching. The diagnosis was verified by pathomorphological and immunohistochemical studies of the biopsy of the affected skin. The presented clinical case emphasizes the importance of doctors’ clinical oncological alertness and the need for clinical and laboratory examination of the patient using modern histological and immunohistochemical methods for studying the skin biopsy.

scholarly journals Cleidocranial dysplasia- case report

2020 ◽  
Vol 9 (9) ◽  
pp. e916998052
Author(s):  
Eleonor Álvaro Garbin Júnior ◽  
Anna Carolina Jaccottet Oliveira ◽  
Niviane Dorigan Vidor ◽  
Mauro Carlos Agner Busato ◽  
Geraldo Luiz Griza ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Regulatory Gene ◽  
Clinical Manifestations ◽  
Osteoblastic Differentiation ◽  
Permanent Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
The Face ◽  
The Common

Cleidocranial dysplasia (CCD) is a rare syndrome, occurring at a rate of 1:10,000,000 in the form presented in this clinical case. This syndrome occurs due to an autosomal dominant inheritance characterized by changes in skeletal formation and development, as a result of a mutation associated with the RUNX2 gene, the main regulatory gene for osteoblastic differentiation, resulting in manifestations such as hypoplastic or aplastic clavicles, brachycephaly, hypoplasia of the middle third of the face, and delay or non-closure of fontanelles. Specifically, in the intraoral region, atypical dental manifestations occur, such as failure in the exfoliation of the primary dentition, delayed eruption of permanent teeth, and multiple supernumerary teeth. Thus, this study aims to present a case report of a patient with the pathognomonic characteristics of the syndrome in its rarest form, as well as the radiographic, imaging and clinical manifestations that allow its diagnosis and a discussion on the common manifestations in such patients, forms of treatment, and the conduct of treatment according to the specific needs of that case..

Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Renal Cell ◽  
Autosomal Dominant ◽  
Colonic Polyps ◽  
Sonographic Evaluation ◽  
Parathyroid Adenomas ◽  
Pulmonary Cysts ◽  
Renal Screening ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

scholarly journals Neuropathic pain post-COVID-19: a case report

2021 ◽  
Vol 14 (7) ◽  
pp. e243459
Author(s):  
Matthew McWilliam ◽  
Michael Samuel ◽  
Fadi Hasan Alkufri
Keyword(s):  
Neuropathic Pain ◽  
Case Report ◽  
Hospital Admission ◽  
Skin Biopsy ◽  
Neurological Examination ◽  
Autonomic Failure ◽  
Whole Body ◽  
Shortness Of Breath ◽  
Burning Pain ◽  
Electrophysiological Tests

A 61-year-old man with no significant medical history developed fever, headache and mild shortness of breath. He tested positive for SARS-CoV-2 and self-isolated at home, not requiring hospital admission. One week after testing positive, he developed acute severe burning pain affecting his whole body, subsequently localised distally in the limbs. There was no ataxia or autonomic failure. Neurological examination was unremarkable. Electrophysiological tests were unremarkable. Skin biopsy, lumbar puncture, enhanced MRI of the brachial plexus and MRI of the neuroaxis were normal. His pain was inadequately controlled with pregabalin but improved while on a weaning regimen of steroids. This case highlights the variety of possible symptoms associated with SARS-CoV-2 infection.

scholarly journals A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy

2021 ◽  
Author(s):  
Qing Li ◽  
Chengfeng Wang ◽  
Wei Li ◽  
Zaiqiang Zhang ◽  
Shanshan Wang ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Skin Biopsy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Collagen Type Iv ◽  
Lacunar Infarcts ◽  
Whole Exome

AbstractPontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease. We report a novel collagen type IV alpha 1 (COL4A1) gene mutation in a Chinese family with PADMAL. The index case was followed up for 6 years. Neuroimaging, whole-exome sequencing, skin biopsy, and pedigree analysis were performed. She initially presented with minor head injury at age 38. MRI brain showed chronic lacunar infarcts in the pons, left thalamus, and right centrum semiovale. Extensive workup was unremarkable except for a patent foramen ovale (PFO). Despite anticoagulation, PFO closure, and antiplatelet therapy, the patient had recurrent lacunar infarcts in the pons and deep white matter, as well as subcortical microhemorrhages. Whole-exome sequencing demonstrated a novel c.*34G > T mutation in the 3′ untranslated region of COL4A1 gene. Skin biopsy subsequently demonstrated thickening of vascular basement membrane, proliferation of endothelial cells, and stenosis of vascular lumen. Three additional family members had gene testing and 2 of them were found to have the same heterozygous mutation. Of the 18 individuals in the pedigree of 3 generations, 12 had clinical and MRI evidence of PADMAL. The mechanisms of both ischemic and hemorrhagic stroke are likely the overexpression of COLT4A1 in the basement membrane and frugality of the vessel walls. Our findings suggest that the novel c.*34G > T mutation appears to have the same functional consequences as the previously reported COL4A1 gene mutations in patients with PADMAL and multi-infarct dementia of Swedish type.

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.

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