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1.
SAGE Open Med Case Rep ; 12: 2050313X241260500, 2024.
Article de Anglais | MEDLINE | ID: mdl-39071186

RÉSUMÉ

We report the case of a 9-year-old boy presenting with eruptive syringomas and macroscopic lesions of calcinosis cutis resembling subepidermal calcified nodules. Literature review revealed eruptive syringomas can be associated with calcinosis cutis with several different presentations. In this report, we review the five different presentations and associations of eruptive syringomas and calcinosis cutis, which to our knowledge has not been categorized before.

2.
SAGE Open Med Case Rep ; 12: 2050313X241231386, 2024.
Article de Anglais | MEDLINE | ID: mdl-38333515

RÉSUMÉ

We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness. Initially, we were faced with the question of whether the phenotype in this family was due to the effects of a single pleiotropic, presumably autosomal recessive gene manifesting as a syndromic form of ichthyosis, or whether there were multiple causal genes, and the ichthyosis was non-syndromic. Ultimately, clinical follow-up of the family, combined with research-based exome sequencing established a diagnosis of NIPAL4 autosomal recessive congenital ichthyosis in both brothers, but the ocular abnormalities causing blindness in the older brother were due to coexisting autosomal recessively inherited loss of function mutations in peroxidasin, the latter finding also seen in a sister unaffected by ichthyosis.

3.
SAGE Open Med Case Rep ; 11: 2050313X231195467, 2023.
Article de Anglais | MEDLINE | ID: mdl-37654551

RÉSUMÉ

Darier's disease is an autosomal dominant inherited skin disorder resulting from mutations in the ATP2A2 gene, which encodes SERCA2, an endoplasmic reticulum calcium ATPase. Darier's disease classically manifests as confluent hyperkeratotic brown-to-red papules that manifest and follow a seborrheic distribution, which include the chest, neck, trunk, and face. Vesicular Darier's disease is a rare variant of the disorder where patients develop numerous vesicles and bullae concurrently or independent of the more typical lesions found in Darier's disease.

4.
SAGE Open Med Case Rep ; 10: 2050313X221131861, 2022.
Article de Anglais | MEDLINE | ID: mdl-36274857

RÉSUMÉ

Generalized pruritus can be the manifestation of many dermatologic and systemic diseases. However, it has been reported infrequently in the literature as a consequence of hyperferritinemia. We report the case of a 70-year-old male presenting to dermatology due to generalized pruritus in the absence of a rash, who was subsequently found to have a significantly elevated serum ferritin and transferrin saturation with otherwise normal iron studies. Hereditary hemochromatosis was ruled out on genetic testing; however, etiologies of secondary iron overload including alcohol use disorder and non-alcoholic fatty liver disease were present. The patient had minimal relief of his pruritus with topical corticosteroids, oral prednisone, and moisturizers. The only successful treatment was phlebotomy which resulted in complete resolution of his long-standing pruritus. We present the fifth case of generalized pruritus associated with hyperferritinemia, treated successfully with phlebotomy.

5.
Isr Med Assoc J ; 24(4): 210-211, 2022 Apr.
Article de Anglais | MEDLINE | ID: mdl-35415976

RÉSUMÉ

BACKGROUND: Medical records discovered after the liberation of ghettos in Nazi-occupied Europe are unique documents that report on the suffering of inmates, on ravaging infectious diseases, and on starvation-related organ degeneration and the resulting mortality. We offer a pathogenetic explanation for the scarcity of acute myocardial infarction in the Lodz Ghetto, Poland, 1941-1944.


Sujet(s)
Génocide , Holocauste , Infarctus du myocarde , Inanition , Humains , Juif , Infarctus du myocarde/diagnostic , Infarctus du myocarde/étiologie , Pologne , Zones de pauvreté , Inanition/complications
9.
Am J Ind Med ; 65(2): 117-131, 2022 02.
Article de Anglais | MEDLINE | ID: mdl-34825393

RÉSUMÉ

BACKGROUND: The World Trade Center (WTC) general responder cohort (GRC) was exposed to environmental toxins possibly associated with increased risk of developing autoimmune conditions. OBJECTIVES: Two study designs were used to assess incidence and risks of autoimmune conditions in the GRC. METHODS: Three clinically trained professionals established the status of possible GRC cases of autoimmune disorders adhering to diagnostic criteria, supplemented, as needed, by specialists' review of consenting responders' medical records. Nested case-control analyses using conditional logistic regression estimated the risk associated with high WTC exposure (being in the 9/11/2001 dust cloud or ≥median days' response worked) compared with low WTC exposure (all other GRC members'). Four controls were matched to each case on age at case diagnosis (±2 years), sex, race/ethnicity, and year of program enrollment. Sex-specific and sensitivity analyses were performed. GRC age- and sex-adjusted standardized incidence ratios (SIRs) were compared with the Rochester Epidemiology Project (REP). Complete REP inpatient and outpatient medical records were reviewed by specialists. Conditions meeting standardized criteria on ≥2 visits were classified as REP confirmed cases. RESULTS: Six hundred and twenty-eight responders were diagnosed with autoimmune conditions between 2002 and 2017. In the nested case-control analyses, high WTC exposure was not associated with autoimmune domains and conditions (rheumatologic domain odds ratio [OR] = 1.03, 95% confidence interval [CI] = 0.77, 1.37; rheumatoid arthritis OR = 1.12, 95% CI = 0.70, 1.77). GRC members had lower SIR than REP. Women's risks were generally greater than men's. CONCLUSIONS: The study found no statistically significant increased risk of autoimmune conditions with WTC exposures.


Sujet(s)
Maladies auto-immunes , Intervenants d'urgence , Exposition professionnelle , Attentats terroristes du 11 septembre , Maladies auto-immunes/épidémiologie , Études cas-témoins , Femelle , Humains , Incidence , Mâle , New York (ville) , Exposition professionnelle/effets indésirables
10.
SAGE Open Med Case Rep ; 9: 2050313X211057923, 2021.
Article de Anglais | MEDLINE | ID: mdl-34777812

RÉSUMÉ

Hidradenitis suppurativa is a chronic, debilitating inflammatory skin disease. Case reports of individuals with hidradenitis suppurativa presenting exclusively on the face, as well as reports of individuals with HIV and hidradenitis suppurativa, are rare. Here, we present the case of an HIV-positive man who presented with hidradenitis suppurativa localized only on his face. We also review facial hidradenitis suppurativa and hidradenitis suppurativa in HIV patients.

13.
Dermatol Ther ; 34(2): e14794, 2021 03.
Article de Anglais | MEDLINE | ID: mdl-33480113

RÉSUMÉ

Drug-induced acanthosis nigricans is an uncommon subtype of acanthosis nigricans and the data on this topic is not well understood by clinicians as it is presently limited in the literature. Previous reports of drug-induced acanthosis nigricans have simply consisted of a list of drugs possibly implicated in causing acanthosis nigricans. Several drugs listed are based on single case reports without biopsy confirmation, report of clearing on stopping the drug or reporting on whether acanthosis nigricans recurred with drug rechallenge. A comprehensive literature search was conducted using PubMed, EMBASE(Ovid), Cochrane Library, Scopus, and Web of Science electronic databases. The authors screened the initial result of the search strategy by title and abstract using the following inclusion criteria: eligible studies included those with patients who developed acanthosis nigricans secondary to a drug. This study is the first to comprehensively review the drugs that have been implicated in the development of acanthosis nigricans. A total of 38 studies were included in the systematic review, and a total of 13 acanthosis nigricans inducing drugs were identified. Nicotinic acid and insulin were the two most significant drugs that were reported to cause acanthosis nigricans. By using the results of this study, we created a revised classification system of drug-induced acanthosis nigricans which can be used as a concise framework for clinicians to refer to.


Sujet(s)
Acanthosis nigricans , Toxidermies , Préparations pharmaceutiques , Acanthosis nigricans/induit chimiquement , Acanthosis nigricans/diagnostic , Biopsie , Humains , Récidive tumorale locale
14.
Int J Dermatol ; 60(2): 141-158, 2021 Feb.
Article de Anglais | MEDLINE | ID: mdl-32783190

RÉSUMÉ

Dermatology has a very distinctive lexicon. The term pityriasis refers to several dermatologic conditions which all feature scaling of the skin. According to the Merriam-Webster dictionary, the term pityriasis was first used in print in 1684. Although the diseases beginning with the name pityriasis are of diverse causation, they do represent important dermatologic diseases, with some common and others quite rare. It is important for dermatologists to be aware and updated on all pityriasis conditions in dermatology.


Sujet(s)
Dermatologie , Pityriasis , Humains , Pityriasis/diagnostic , Peau
16.
Materials (Basel) ; 13(17)2020 Aug 26.
Article de Anglais | MEDLINE | ID: mdl-32858968

RÉSUMÉ

High dense (>99% density) SiC ceramics were produced with addition of C and B4C by spark plasma sintering method at 1950 °C under 50 MPa applied pressure for 5 min. To remove the oxygen from the SiC, it was essential to add C. Two different mixture method were used, dry mixing (specktromill) and wet mixing (ball milling). The effect of different levels of carbon additive and mixture method on density, microstructure, elastic modulus, polytype of SiC, Vickers hardness, and fracture toughness were examined. Precisely, 1.5 wt.% C addition was sufficient to remove oxide layer from SiC and improve the properties of dense SiC ceramics. The highest hardness and elastic modulus values were 27.96 and 450 GPa, respectively. Results showed that the 4H polytype caused large elongated grains, while the 6H polytype caused small coaxial grains. It has been observed that it was important to remove oxygen to achieve high density and improve properties of SiC. Other key factor was to include sufficient amount of carbon to remove oxide layer. The results showed that excess carbon prevented to achieve high density with high elastic modulus and hardness.

17.
Sci Adv ; 5(10): eaay0352, 2019 10.
Article de Anglais | MEDLINE | ID: mdl-31692742

RÉSUMÉ

Boron carbide suffers from a loss of strength and toughness when subjected to high shear stresses due to amorphization. Here, we report that a small amount of Si doping (~1 atomic %) leads to a substantial decrease in stress-induced amorphization due to a noticeable change of the deformation mechanisms in boron carbide. In the undoped boron carbide, the Berkovich indentation-induced quasi-plasticity is dominated by amorphization and microcracking along the amorphous shear bands. This mechanism resulted in long, distinct, and single-variant shear faults. In contrast, substantial fragmentation with limited amorphization was activated in the Si-doped boron carbide, manifested by the short, diffuse, and multivariant shear faults. Microcracking via fragmentation competed with and subsequently mitigated amorphization. This work highlights the important roles that solute atoms play on the structural stability of boron carbide and opens up new avenues to tune deformation mechanisms of ceramics via doping.

19.
Pediatr Dermatol ; 36(5): 686-689, 2019 Sep.
Article de Anglais | MEDLINE | ID: mdl-31259429

RÉSUMÉ

Red ear syndrome has been reported in the literature to have similarities to erythromelalgia with auricular involvement; however, the distinction between the two is controversial. Red ear syndrome has previously been classified as idiopathic (primary) or secondary, with headaches being the most common association in the idiopathic or primary form. We present a case of pediatric red ear syndrome with hand and foot involvement that we believe represents auricular erythromelalgia. In this report, we propose a classification system to unify the diagnoses of red ear syndrome and erythromelalgia and review the literature on pediatric cases of red ear syndrome.


Sujet(s)
Oreille externe , Érythromélalgie/diagnostic , Enfant , Érythromélalgie/thérapie , Humains , Mâle , Syndrome
20.
SAGE Open Med Case Rep ; 7: 2050313X19850353, 2019.
Article de Anglais | MEDLINE | ID: mdl-31205713

RÉSUMÉ

Leukocytoclastic vasculitis is the most common form of cutaneous vasculitis. It is a neutrophilic small vessel vasculitis resulting from the deposition of circulating immune complexes. Henoch-Schonlein purpura is a systemic type of leukocytoclastic vasculitis, characterized by immunoglobulin A-mediated blood vessel injury. We present a case of Henoch-Schonlein purpura in an adult female manifesting with a vasculitic rash with Koebner phenomenon.

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