August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.
January 2024 in “JAAD case reports” This study discusses zinc's vital role in skin cell growth and how its deficiency can lead to acrodermatitis enteropathica, marked by symptoms like alopecia and dermatitis. It notes that similar symptoms appear in people with certain metabolic conditions, referred to as acrodermatitis dysmetabolica.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.
36 citations
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August 2011 in “Journal of dermatological science” This article examines the role and composition of integral hair lipids in forming a protective barrier similar to the skin's epidermal lipid layer and reports no new findings about their effects.
6 citations
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March 2016 in “PLoS ONE” This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.
1 citations
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November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
3 citations
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August 2021 in “Clinical Case Reports” This case report describes a patient with a NUDT15 minor variant who experienced severe myelosuppression due to azathioprine, emphasizing typical symptoms as clues to the adverse reaction.
April 2024 in “Current Rheumatology Reviews” This case report describes an 8-year-old girl with Mixed Connective Tissue Disease who experienced remission after treatment with immunomodulator drugs, highlighting the diagnostic value of anti-U1 RNP antibody testing in children.
18 citations
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February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
8 citations
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September 2016 in “Pediatric dermatology” This review discusses the diverse clinical manifestations of mucopolysaccharidoses in children and emphasizes the importance of early diagnosis and treatment initiation, but it reports no new clinical findings.
17 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where neurogenic bladder dysfunction developed, attributed to demyelinating lesions in the patient's peripheral nerves, spinal cord, and cerebral white matter.
7 citations
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August 2019 in “JAAD Case Reports” This article reviews the potential relationship between serum amyloid A and hidradenitis suppurativa, highlighting genetic influences, but reports no new clinical findings.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” This study found that sodium metabisulfite activates sodium channels and increases cellular excitability and excitotoxicity in both cardiomyocyte and neuron models, which exacerbates seizures and neuronal damage in rats.
14 citations
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July 2015 in “International Journal of Molecular Sciences” This study found that S-Methylmethionine sulfonium (SMMS) enhances cell survival and reduces damage from UVB irradiation in skin cells, suggesting its potential as a cosmetic ingredient for UV protection.
May 2025 in “International Journal of Trichology” This study highlights two cases of Mudichood dermatosis in Pune, Maharashtra, suggesting the condition may occur outside its typical geographic range due to hair management practices causing friction.
2 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where serial urodynamic studies revealed neurogenic bladder dysfunction linked to demyelinating lesions in the patient.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
January 2025 in “Clinical Case Reports” This case study details the successful treatment of macrophage activation syndrome with dexamethasone and cyclosporine in a 36-year-old woman with adult-onset Still's disease, highlighting the critical importance of timely aggressive treatment.
2 citations
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August 2004 This study found that early diagnosis using gas chromatography/mass spectrometry and appropriate long-term treatment are crucial for improving outcomes in patients with methylmalonic acidemia.
3 citations
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March 2002 in “Linchuang pifuke zazhi” This study analyzed clinical manifestations of dermatomyositis in 18 patients, reporting common symptoms such as skin rash, proximal muscle weakness, and elevated serum markers, with treatment typically involving prednisolone and hydroxychloroquine.
4 citations
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January 2022 in “Current pharmaceutical design” This review discusses the benefits and applications of microsponges delivery systems in drug delivery, particularly for topical treatments, and reports no new clinical findings.
22 citations
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March 2007 in “European journal of pediatrics” This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” This case report suggests that madarosis, or eyelash loss, may be associated with mitochondriopathy, expanding the known causes of madarosis to include this condition.
28 citations
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November 2013 in “The FASEB journal” In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.
12 citations
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February 2010 in “Tetrahedron Letters” This article describes the synthesis of novel polyamine-modified minoxidil analogs and conjugates to potentially enhance minoxidil's biological activity, selectivity, and water solubility, but reports no new biological results.
31 citations
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July 1975 in “PubMed” This study reported that intensive immunosuppression in multiple sclerosis patients significantly reduced relapse rates versus pre-treatment expectations, though some required ongoing treatment after tapering.
15 citations
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March 2023 in “BioMed” This review discusses multisystem inflammatory syndrome in adults (MIS-A) related to SARS-CoV2 and outlines the existing knowledge and unanswered questions, reporting no new clinical results.