- Alström syndrome in a Chinese girl: a case report and literature review. [Case Reports]Transl Pediatr. 2026 Jun 30; 15(6):258.TP
- CONCLUSIONS: We identified a novel likely pathogenic variant in the ALMS1 gene as the underlying cause of ALMS in this Chinese patient. The clinical presentation highlights the remarkable phenotypic variability of the disorder, a key factor contributing to frequent diagnostic delays or errors. Consequently, early genetic confirmation is imperative to guide appropriate and timely interventions that can significantly improve patient care and quality of life.
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- Evaluating the Safety and Efficacy of Sirolimus Topical Gel 0.2% to Treat Acanthosis Nigricans. [Clinical Trial, Phase II]J Drugs Dermatol. 2026 Jul 01; 25(7):615-620.JD
- CONCLUSIONS: Sirolimus gel 0.2% was safe and effective for AN, producing early improvements in pigmentation, texture, and patient-reported outcomes. Larger randomized controlled trials are warranted to validate these findings.  .
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- The Dermatologist's Role in Early PMOS Diagnosis. [Letter]Australas J Dermatol. 2026 Jul 02. [Online ahead of print]AJ
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- Frequency of Insulin Resistance in Overweight Patients With Metabolic-Associated Fatty Liver Disease (MAFLD) at a Tertiary Healthcare Centre in Bangladesh. [Journal Article]Endocrinol Diabetes Metab. 2026 Jul; 9(4):e70271.ED
- CONCLUSIONS: A high frequency (60%) of insulin resistance was found among overweight, non-diabetic patients with MAFLD. This finding underscores the immense value of regular screening for hyperglycemia in this population. With the increasing burden of metabolic syndrome, early identification of IR would enable timely preventive interventions-potentially slowing the progression to type 2 diabetes and consequently reducing subsequent risk of developing diabetes-related complications.
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- A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation. [Case Reports]Front Endocrinol (Lausanne). 2026; 17:1840942.FE
- CONCLUSIONS: This case is attributed to a de novo p.Asp1110His variant in INSR. The diagnostic process highlights the importance of genetic testing in adolescents presenting with atypical PCOS features, particularly severe hyperinsulinemia and non-obesity. This report expands the known pathogenic variant spectrum of the INSR gene and reviews TAIRS cases reported since 2010. It further emphasizes that long-term management of TAIRS requires individualized, multidisciplinary strategies, including pharmacological and medical nutrition therapy in addition to lifestyle interventions. Type A insulin resistance syndrome (TAIRS) is a rare genetic disorder resulting from mutations in the insulin receptor (INSR) gene and may be inherited in either an autosomal dominant or autosomal recessive manner. The disorder is primarily characterized by severe insulin resistance, accompanied by clinical features such as hyperandrogenism, hirsutism, and acanthosis nigricans. In female patients, polycystic ovary syndrome (PCOS) is a common associated condition. Early diagnosis and intervention are crucial, as they can delay the onset of precocious puberty and reduce the risk of metabolic and endocrine complications, as well as related neoplasms. This article reports a TAIRS proband carrying a novel mutation, with the aim of providing a reference for the clinical diagnosis and management of this rare condition.
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- Type B insulin resistance with glycemic extremes: a case report and literature review. [Case Reports]Front Endocrinol (Lausanne). 2026; 17:1852784.FE
- CONCLUSIONS: This case illustrates a rare presentation of TBIR in a young Hispanic female, initially manifesting as refractory DKA and extreme insulin resistance, followed by antibody-induced hypoglycemia, highlighting the spectrum of TBIR. This biphasic glycemic course underscores the complex immunopathophysiology of TBIR. To our knowledge, this is the first reported case describing the use of a GLP-1 receptor agonist (semaglutide) to reduce insulin requirements in TBIR prior to immunosuppressive therapy. Continuous glucose monitoring proved essential in guiding therapy and preventing severe hypoglycemia. This case emphasizes the need for early diagnosis, individualized immunosuppressive regimens, and vigilant metabolic monitoring to optimize outcomes in patients with TBIR.
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- Dermatoscopic Features of Hyperpigmented Dermatoses. [Review]Clin Cosmet Investig Dermatol. 2026; 19:609514.CC
- In recent years, dermatoscopy has emerged as a valuable adjunctive tool for the diagnosis of various cutaneous disorders. Initially developed for the evaluation of melanocytic lesions, this non-invasive technique has since demonstrated significant utility in the assessment of non-melanocytic hyperpigmented dermatoses. This review provides an up-to-date and practical overview of the dermatoscopic …
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- Acanthosis nigricans as a diagnostic clue for familial partial lipodystrophy type 2: a case report with review of literature on Japanese cases. [Journal Article]Endocr J. 2026 May 12. [Online ahead of print]EJ
- Familial partial lipodystrophy (FPLD) is a rare inherited disorder characterized by limb adipose tissue atrophy and metabolic abnormalities, including severe insulin resistance. However, diagnosis is often delayed because the characteristic physique can be difficult to recognize without a high index of suspicion. We present the case of a 19-year-old Japanese woman diagnosed with FPLD type 2 (FPLD…
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- Skin as a Metabolic Organ: Dermatologic Markers of Morbid Obesity and Their Role in Risk Stratification and Treatment Monitoring. [Review]Diagnostics (Basel). 2026 Apr 27; 16(9).D
- Morbid obesity is a chronic condition characterized by metabolic disorders and low-grade chronic inflammation, both of which are closely linked to insulin resistance and adipokine dysregulation. In addition to its systemic effects, obesity also leads to structural and functional changes in the skin, supporting its role as an active metabolic and immunological organ. This study analyzed skin lesio…
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- Facial Melanosis: A Comprehensive Review of Uncommon and Common Presentations with Personal Experience. [Review]Indian J Dermatol. 2026; 71(3):171-184.IJ
- Facial melanoses (FMs) encompass a diverse group of disorders characterised by altered facial pigmentation, particularly prevalent in individuals with darker skin types, such as the Indian population. While common causes like melasma, post-inflammatory hyperpigmentation, and lichen planus pigmentosus are well documented in the literature, this review emphasises the lesser-known and uncommon cause…
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- Cutaneous Complications in Type 1 Diabetes: Influence of Smoking. [Journal Article]Cureus. 2026 Apr; 18(4):e106513.C
- CONCLUSIONS: This study concluded that smoking significantly affects the pattern of skin manifestations in patients with type 1 diabetes mellitus. Smokers showed a higher prevalence of xerosis, acanthosis nigricans, and bullae, while non-smokers more often exhibited ichthyosis and diabetic rubeosis.
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- The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study. [Journal Article]Turk Arch Pediatr. 2026 Mar 27; 61(5):420-430.TA
- CONCLUSIONS: This study describes clinical features of well-defined syndromes such as Apert, Crouzon, and Pfeiffer; reports craniosynostosis in hypochondroplasia; and documents rare ERF- and IL11RA-related forms, highlighting the importance of combining clinical and molecular diagnostics.
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- Skin manifestations of hyperandrogenism: an update. [Review]
- CONCLUSIONS: Hyperandrogenism and the expression of AR in the skin precipitate the development of androgen-associated dermatologic conditions. Androgen-targeted treatment appears to be more effective when compared with other non-androgen-targeted therapeutic options. Further research is required to analyze the existing treatments and develop new approaches.
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- Building and validating a stigma prediction model for overweight and obese patients with polycystic ovary syndrome (PCOS): A observational study. [Journal Article]Medicine (Baltimore). 2026 May 01; 105(18):e48655.M
- This observational study was designed to establish and validate a stigma prediction model for patients with polycystic ovary syndrome (PCOS). The stigma risk scoring table for overweight and obese patients with PCOS has good predictive ability. When an overweight or obese patient with PCOS presents, the prediction model allows clinic staff to rapidly grade hirsutism, acne, and acanthosis, determi…
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- Is there an association between hyperandrogenic states in women and endrometrial cancer? A narrative review. [Review]
- PURPOSE: Many women suffer from hyperandrogenic conditions during their lifespan. The most prevalent is polycystic ovary syndrome (PCOS), which is characterized by hormonal, metabolic, and reproductive derangements in women of reproductive age. Endometrial cancer of epithelial origin (EC) is among the most common malignancies affecting women’s reproductive systems. It has been suggested that andr…
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