13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
4 citations
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March 2020 in “JAAD Case Reports” This case report describes a 47-year-old male with rare total melanonychia linked to vitamin B12 deficiency, whose nail discoloration and constitutional symptoms improved following vitamin B12 supplementation.
2 citations
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October 2024 in “JCEM Case Reports” This study describes a case of a 35-year-old woman who developed symptoms of hyperandrogenism and disrupted steroidogenesis due to chronic use of electronic cigarettes containing compounds similar to etomidate, despite no genetic mutation indicating 11β-hydroxylase deficiency.
2 citations
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October 2016 in “Nutrition in clinical practice” This case report describes a rare instance of reversible melasma-like hyperpigmentation linked to vitamin B12 deficiency due to pernicious anemia, and explores possible mechanisms for this association.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
1 citations
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January 2013 in “Nasza Dermatologia Online” This case report describes reversible hypopigmentation of hair in a child due to vitamin B12 deficiency, which improved after vitamin B12 supplementation.
1 citations
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November 1995 in “Postgraduate medical journal” This article presents a case of 5-alpha-reductase deficiency in a Saudi individual, reporting no new research findings.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
June 2019 in “Kufa journal for veterinary medical sciences” This study found that vitamin C deficiency in neonatal dairy calves is closely associated with skin problems like dermatosis, but treatment with vitamin C led to improvements.
November 2018 in “The Journal of Allergy and Clinical Immunology: In Practice” This report documents the successful use of theophylline in treating an 11-year-old girl with a rare immunodeficiency syndrome, suggesting potential in drug repurposing for primary immunodeficiency disorders and asthma.
August 2012 in “ScholarSpace (University of Hawaii at Manoa)” This study found that a combination of certain symptoms may predict non-anemic iron deficiency and suggest the need for further iron status assessment beyond basic hemoglobin and hematocrit tests.
November 2024 in “Jurnal Biomedika dan Kesehatan” This study explores premature graying of hair, outlining potential causes such as genetic factors, nutritional deficiencies, and autoimmune disorders, and evaluates various management strategies including nutritional supplements, pharmacotherapy, and addressing underlying conditions.
January 2007 in “The Year book of surgery” Mast cells and VEGF contribute to post-surgery adhesions, and blocking VEGF can reduce these adhesions; also, certain factors affect wound healing and fetal skin heals differently with age.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
113 citations
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June 2010 in “Biological Chemistry” This study found that mice deficient in the enzyme cathepsin L exhibited impaired degradation of autophagolysosomal content, leading to an accumulation of large, abnormal vesicles in various tissues.
95 citations
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July 2007 in “Journal of Experimental Botany” This study found that the superior growth and higher zinc uptake of wild-type barley compared to its root-hairless mutant in zinc-deficient soil is mainly due to greater root surface area from root hairs.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
21 citations
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January 2020 in “General and Comparative Endocrinology” This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.
15 citations
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October 2016 in “PubMed” This study found that vitamin D, ferritin, and zinc deficiencies are prevalent among patients with telogen effluvium in the greater Pittsburgh area, suggesting these should be included in initial evaluations.
4 citations
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March 2024 in “The Journal of Cell Biology” This study found that Caspase-1, traditionally viewed as an inflammasome component, is secreted upon wounding and plays a novel role by triggering hair follicle stem cell migration into the epidermis, offering insights into epithelial hyperplasia mechanisms in inflammatory skin conditions.
1 citations
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November 2019 in “Damanhour Journal of Veterinary Sciences” This study found that cows with alopecia, ill-thrift, and infertility exhibited significant decreases in serum copper, zinc, calcium, inorganic phosphorus, magnesium, and hematological measures, indicating moderate microcytic, hypochromic anemia.
January 2025 in “SKIN The Journal of Cutaneous Medicine” This study suggests that while vitamin D3 deficiency is linked to alopecia areata severity, evidence for the effectiveness of supplementation or topical calcipotriol treatment remains inconsistent and low quality.
January 2024 in “Pediatrics International” In this case study, a 6-year-old boy with autism spectrum disorder developed iodine deficiency hypothyroidism due to extreme picky eating, illustrating the need for flexible dietary interventions in similar cases.
April 2019 in “Journal of the Endocrine Society” This case report suggests that a supplement containing biotin, beta carotene, vitamin C, zinc, and copper may improve insulin resistance markers and hair loss in a patient with non-classic 11-hydroxylase deficiency.
January 2018 in “Elsevier eBooks” This review discusses the role of DHT in male sexual differentiation and fertility in individuals with 5α-reductase-2 deficiency, reporting no new clinical results.
8 citations
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February 2015 in “Cellular immunology” This study found that deleting Snai2 and Snai3 genes in mice disrupts immune cell development, resulting in severe autoimmunity and early death due to the loss of immune tolerance.
216 citations
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May 2003 in “Journal of Investigative Dermatology” This study found that sebaceous-gland-derived glycerol significantly contributes to stratum corneum hydration in mice with sebaceous gland deficiencies.