Deep Dermatophytosis and Inherited CARD9 Deficiency Lanternier, Fanny; Pathan, Saad; Vincent, Quentin B ...
New England journal of medicine/The New England journal of medicine,
10/2013, Volume:
369, Issue:
18
Journal Article
Peer reviewed
Open access
Dermatophyte infections are unusual but can cause serious invasive disease. In this report, autosomal recessive CARD9 deficiency indicated a potential genetic susceptibility to deep dermatophytosis, ...a severe invasive fungal infection.
Deep dermatophytosis is a rare, invasive, sometimes life-threatening, fungal infection caused by dermatophytes.
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These filamentous fungi are ubiquitous and usually cause benign infections that are limited to keratinized tissues and lead to onychomycosis, tinea corporis, tinea cruris, tinea pedis, or tinea capitis.
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In deep dermatophytosis, dermatophytes invade the dermis and hypodermis and disseminate to the skin, hair, nails, lymph nodes, and brain.
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Deep dermatophytosis has been reported in patients with the human immunodeficiency virus and patients who are receiving immunosuppressive therapy.
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It was first described in 1959 in otherwise apparently healthy persons as “dermatophytic disease.”
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Forty-five cases have been reported . . .
A Cornflake-like Dermatitis: A Quiz Thabouti, Marwa; Ghariani Fetoui, Nadia; Sriha, Badreddine ...
Acta dermato-venereologica,
03/2023, Volume:
103
Journal Article
Peer reviewed
Open access
Abstract is missing (Quiz)
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
3.
Large hypochromic annular plaques on the trunk Mohamed, Ben Rejeb; Colandane Noueiri, Belajouza; Sarra, Saad ...
Journal der Deutschen Dermatologischen Gesellschaft,
September 2022, Volume:
20, Issue:
9
Journal Article
Peer reviewed
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
4.
Große hypochrome ringförmige Plaques am Rumpf Mohamed, Ben Rejeb; Noueiri, Belajouza Colandane; Sarra, Saad ...
Journal der Deutschen Dermatologischen Gesellschaft,
September 2022, 2022-09-00, 20220901, Volume:
20, Issue:
9
Journal Article
Peer reviewed
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Pityriasis rosea is a common, acute, self limiting inflammatory skin disease. Pityriasis rosea‐like eruptions (PR‐LE) have been reported after drugs. The clinical presentation of PR‐LE can be ...distinguished from pityriasis rosea. We reporte a 41‐year‐old woman who developed PR‐LE 5 days after administration domperidone.
The clinical presentation of Pityriasis rosea‐like eruptions (PR‐LE) can be distinguished from pityriasis rosea. Herald patch and prodromal systemic symptoms are absent in PR‐LE, and lesions are more confluent forming large itchy lesions.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Key clinical Message
Clown nose‐like lesion can be the manifestation of inflammatory, infectious or neoplasm‐related diseases, and some genetic syndromes. Lung carcinoma metastasize rarely to the ...skin. To our knowledge, 16 cases of lung cancer metastasis with clown nose‐like lesions have been reported. Here, we describe a new case.
Cutaneous metastases of small‐cell‐lung carcinoma are rare, and nose involvement is much rarer. However, it can be the first warning sign of lung cancer. We describe the case of a patient who presented with a red nodule of the nasal tip reminding a clown‐nose.
Cutaneous metastases of small‐cell‐lung carcinoma are rare, and nose involvement is much rarer. However, it can be the first warning sign of lung cancer. We describe the case of a patient who presented with a red nodule of the nasal tip reminding a clown‐nose.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with ...insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai-Dorfman disease (RDD). Herein, we report five new patients from a single family who present with phenotypes that associate features of H syndrome and Familial Rosai-Dorfman disease.
We investigated the clinical, biochemical, histopathological and molecular findings in five Tunisian family members' diagnosed with Familial RDD and/or H syndrome. The solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3) gene was screened for molecular diagnosis using direct Sanger sequencing.
Genetic analysis of all affected individuals revealed a previously reported missense mutation c.1088 G > A p.Arg363Gln in exon 6 of the SLC29A3 gene. Four affected members presented with clinical features consistent with the classical H syndrome phenotype. While their cousin's features were in keeping with Familial Rosai-Dorfman disease diagnosis with a previously undescribed cutaneous RDD presenting as erythematous nodular plaques on the face. This report underlines the clinical variability of SLC29A3 disorders even with an identical mutation in the same family.
We report a rare event of 5 Tunisian family members' found to be homozygous for SLC29A3 gene mutations but showing a different phenotype severity. Our study reveals that despite a single mutation, the clinical expression of the SLC29A3 disorders may be significantly heterogeneous suggesting a poor genotype-phenotype correlation for the disease.
Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels. ...Autosomal dominant HIES caused by loss of function mutations in Signal transducer and activator of transcription 3 (
) gene is the prototype of these disorders. Over the past two decades, advent in genetic testing allowed the identification of ten other etiologies of HIES. Although Dedicator of Cytokinesis 8 (DOCK8) deficiency is no more classified among HIES etiologies but as a combined immunodeficiency, this disease, characterized by severe viral infections, food allergies, autoimmunity, and increased risk of malignancies, shares some clinical features with STAT3 deficiency. The present study highlights the diagnostic challenge in eleven patients with the clinical phenotype of HIES in a resource-limited region. Candidate gene strategy supported by clinical features, laboratory findings and functional investigations allowed the identification of two heterozygous
mutations in five patients, and a bi-allelic
mutation in one patient. Whole Exome Sequencing allowed to unmask atypical presentations of DOCK8 deficiency in two patients presenting with clinical features reminiscent of STAT3 deficiency. Our study underlies the importance of the differential diagnosis between STAT3 and DOCK8 deficiencies in order to improve diagnostic criteria and to propose appropriate therapeutic approaches. In addition, our findings emphasize the role of NGS in detecting mutations that induce overlapping phenotypes.
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