September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
July 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study highlighted knuckle hyperpigmentation as an early sign of vitamin B12 deficiency, indicating a potential link to megaloblastic anemia in the vegetarian population in India.
June 2012 in “Springer eBooks” Eating disorders can cause various hair problems, and while hair loss in these disorders is linked to metabolic syndrome, treatment focuses on specific medications and lifestyle changes for the syndrome.
27 citations
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June 1989 in “Journal of Medical Genetics” This case report describes four patients with hypertrichosis cubiti and short stature, but could not determine a genetic link between hypertrichosis cubiti and skeletal dysplasia.
February 2024 in “Journal of Paediatrics and Child Health” This case report suggests the co-occurrence of systemic lupus erythematosus and an eating disorder in an adolescent may be linked through shared adolescent stress factors rather than neuropsychiatric lupus, despite algorithmic indications.
June 2026 in “JAAD Case Reports” Scurvy, caused by vitamin C deficiency, can occur in people with restrictive diets and can be diagnosed by twisted hair shafts.
December 2022 in “Biological and Clinical Sciences Research Journal” This study found that among mixed connective tissue disease patients in a tertiary care hospital in Pakistan, Raynaud phenomenon was the most common clinical feature, present in 80% of patients.
April 2024 in “Food science & nutrition” This study assessed malnutrition among 657 internally displaced school-aged children in Cameroon, finding high rates of stunting (27.1%), wasting (23%), thinness (21.6%), underweight (20.1%), anemia (30%), low serum iron (44.5%), and poor protein status (35.7%), highlighting the urgent need for nutrition interventions.
January 2025 in “International Journal of Pharmaceutical Quality Assurance” This study, conducted among elderly patients in an Indian dermatology department, found that pruritus was the most common complaint, while fungal infections and eczematous disorders were also prevalent; notably, age-related changes like wrinkling and hair graying affected all participants.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This article discusses various causes of rickets in children and describes VDDR-2A as a type of refractory rickets often linked to alopecia totalis in infancy, but reports no new clinical findings.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study reports a rare case of two siblings with lipoedematous scalp, suggesting a possible genetic link that warrants further investigation.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
1 citations
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January 2023 in “Indian Dermatology Online Journal” This article emphasizes the importance of early recognition and multidisciplinary management of mucocutaneous manifestations in chemotherapy to control symptoms and reduce treatment-related morbidity, but presents no new clinical findings.
October 2024 in “Journal of the Endocrine Society” This case study reported a 40-year-old woman developing Cushing Syndrome months after a single intraarticular injection of Triamcinolone Acetonide, highlighting the potential long-term effects of corticosteroid exposure and the importance of awareness about these risks for clinicians and patients.
January 2019 in “International Journal of Clinical & Medical Images” This clinical image report discusses a 50-year-old male with ethanol-related chronic liver disease who, despite showing signs of Dupuytren Disease, was asymptomatic and therefore did not receive treatment.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
April 2019 in “Journal of the Endocrine Society” This case report highlighted rapid virilization in a woman with adrenocortical carcinoma, stressing the importance of androgen evaluation to suspect underlying ovarian or adrenal tumors.
September 2019 in “Journal of evolution of medical and dental sciences” In this study of patients with obesity, the most common skin disorders observed were acanthosis nigricans, skin tags, and stretch marks, emphasizing the impact of obesity on dermatological health.
February 2025 in “La Pediatria Medica e Chirurgica” In this case study, a 12-year-old boy with Cushing's Disease experienced a complex diagnostic journey; ultimately, a left-side ACTH-secreting microadenoma was identified and treated with gamma knife therapy, normalizing hypercortisolism but resulting in growth hormone deficiency.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
November 2024 in “Global Journal of Human-Social Science” This study found that 69.89% of patients with metabolic syndrome attending primary healthcare in Gurupi, Brazil, exhibited dermatological manifestations, with morbid obesity strongly linked to these skin changes.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
4 citations
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December 2001 in “Endoscopy” In this case study, administration of prednisolone and Bactrim for a woman with Cronkhite-Canada syndrome led to the cessation of diarrhea, increased serum protein, and improvement in hyperpigmentation and hair regrowth.
February 2026 in “Pediatrics in Review” This case report describes an infant with congenital hyperinsulinism linked to a genetic mutation in the ABCC8 gene, illustrating challenges in managing persistent hypoglycemia despite medical interventions, leading to a near-total pancreatectomy.
7 citations
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August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
October 2004 in “Kafrelsheikh Veterinary Medical Journal” In this study, buffalo calves fed only corn silage showed deficiencies in copper, zinc, selenium, and vitamin A, along with improved physiological conditions after dietary supplementation and treatment.
19 citations
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January 2006 in “Indian Journal of Dermatology” In this study, common skin manifestations in hypothyroidism patients included dry, coarse skin, pigmentary disorders, and telogen effluvium.