Progressive symmetrical erythrokeratodermia - Case report*

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.

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

Revista CEFAC ◽

10.1590/1982-0216/202022416519 ◽

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.

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Keratolytic Winter Erythema: a misdiagnosed palmoplantar dermatosis

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20211714 ◽

2021 ◽

Vol 7 (3) ◽

pp. 469

Author(s):

Vidya Kharkar ◽

Anmol Bhargava

Keyword(s):

Case Report ◽

South African ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Unknown Etiology ◽

Autosomal Dominant Disorder ◽

European Descent ◽

African Families ◽

Relevant Family History ◽

Variable Penetrance

<p class="abstract">Keratolytic Winter Erythema, also known as ‘Erythrokeratolysis hiemalis’ or ‘Oudtshoorn disease’ is a rare genetic disorder of keratinization of an unknown etiology characterized by cyclical erythema and intermittent skin peeling usually over palms and soles, particularly during winter.It was originally described in South African families of European descent originating from the Oudtshoorn district of Cape Provence, and has been since identified in several other countries. It is an autosomal dominant disorder with variable penetrance. The condition <a name="_Hlk67093214"></a>is often misdiagnosed as Keratolysis exfoliativa, but presence of a relevant family history, winter exacerbation and preceding hyperhidrosis with interdigital involvement differentiate it from the former. We present a case report with clinical histopathological data of an 18-year-old female with attributes of erthrokeratolysis hiemalis. This case is being reported due to its rarity.</p>

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Cleidocranial dysplasia- case report

Research Society and Development ◽

10.33448/rsd-v9i9.8052 ◽

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..

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

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20203755 ◽

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>

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

American Journal of Sonography ◽

10.25259/ajs-1-2019 ◽

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.

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Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity Onset Diabetes of the Young: a Case Report With Kidney Biopsy

Kidney Medicine ◽

10.1016/j.xkme.2020.10.007 ◽

2020 ◽

Author(s):

Yuki Oba ◽

Naoki Sawa ◽

Hiroki Mizuno ◽

Junichi Hoshino ◽

Keiichi Kinowaki ◽

...

Keyword(s):

Case Report ◽

Kidney Disease ◽

Autosomal Dominant ◽

Kidney Biopsy ◽

Maturity Onset Diabetes ◽

Onset Diabetes

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

Case Reports in Obstetrics and Gynecology ◽

10.1155/2018/7927362 ◽

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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