February 2018 in “Medical Hypotheses” This article suggests that male pattern hair loss might have historically served as an evolutionary signal for women to choose younger male partners, potentially improving population fitness.
13 citations
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May 1996 in “Archives of Disease in Childhood” This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.
7 citations
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January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
82 citations
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April 1981 in “Clinical endocrinology” This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.
January 2024 in “Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica/Revista de la Asociacion Colombiana de Dermatologia y Cirugia Dermatologica” This case report highlights the successful treatment of alopecia areata universalis with Baricitinib, suggesting potential long-term effectiveness of janus kinase inhibitors for this autoimmune hair loss condition.
19 citations
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April 1995 in “Clinical Genetics” This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
9 citations
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August 1986 in “Archives of Pediatrics and Adolescent Medicine” In this study, among 58 girls diagnosed with isosexual precocious puberty, 5.2% had family histories of sexual precocity, indicating familial patterns may be more common than previously thought.
August 2024 in “International Journal of Women’s Dermatology” This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.
May 2014 in “Transfusion and Apheresis Science” The study found that the quality of cord blood units remains consistent before freezing and after thawing, indicating that attached tube segments reliably represent the graft's properties.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
31 citations
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March 1963 in “American journal of diseases of children” This report details a case of acrodermatitis enteropathica in a 4-month-old infant, noting the disorder's rarity and familial transmission, and includes a literature review with no new clinical results.
1 citations
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November 2023 in “Indian Dermatology Online Journal” In a rare case described by this source, a woman in her thirties was diagnosed with primary essential cutis verticis gyrata, a condition marked by thick scalp folds, after secondary causes were ruled out through clinical evaluations and biopsy.
August 2025 in “Journal of Cosmetic Dermatology” This study reported significant short-term scalp hair regrowth and increased density in a 4-year-old with Marie Unna hereditary hypotrichosis following topical 5% minoxidil treatment, suggesting its potential benefit in this condition.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
December 2024 in “Clinical Cosmetic and Investigational Dermatology” This study reports that vitiligo prevalence in a Saudi cohort is similar to global figures, with stress as a common trigger, frequent lesional pruritus, and widespread thyroid issues and low vitamin D levels.
May 2023 in “Advances in medicine” In this study, Alopecia Areata patients were generally knowledgeable about their condition, believed it was due to genetic or health factors, and experienced significant anxiety and depression affecting their quality of life.
January 2024 in “SAGE Open Medical Case Reports” In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.
2 citations
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July 2015 in “Journal of Cosmetic Dermatology” This study did not find any correlation or linkage disequilibrium between androgen receptor gene CAG/GGC haplotypes and androgenetic alopecia in Mexican brothers.
1 citations
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July 2024 in “International Journal of Biological Research” This study found that a high percentage of pediatric sickle cell disease patients have parents from medium-high socioeconomic status, indicating that the educational background of parents did not influence the disease's prevalence.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
January 2026 in “International Journal of Molecular Sciences” This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.
September 2002 in “Fertility and sterility” This study found that hirsutism is more frequent among female relatives of PCOS patients, suggesting a hereditary aspect of PCOS, while premature balding was not more common among male relatives.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
1 citations
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January 2019 in “Open Journal of Internal Medicine” This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.
4 citations
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January 2014 in “Bone marrow transplantation” Alopecia areata can be transferred through stem cell transplants from affected siblings.
1 citations
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May 2007 in “PubMed” This case study of a subfertile couple highlighted the importance of considering haemochromatosis, particularly involving the C282Y mutation of the HFE gene, in patients with endocrine disorders linked to hypogonadism.
5 citations
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January 2012 in “International journal of trichology” This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.