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This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.

This study found that Epstein pearls and Mongolian spots are the most common skin lesions in newborns in India, influenced by interracial, environmental, and hormonal factors.

This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.

In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.

This case report highlights the challenges in diagnosing simple-virilizing congenital adrenal hyperplasia, emphasizing the importance of early expert evaluation to prevent irreversible changes such as virilization.

This case report describes a 10-year-old girl with lamellar ichthyosis who showed marked improvement in scaling and skin stiffness after six weeks of treatment with emollient and supportive therapy.

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.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

In this study, researchers conducted a retrospective analysis of 16 cases of erosive palmoplantar lichen planus in North East India, finding a higher prevalence in pediatric and male patients, with common clinical features including plantar involvement and histopathological indicators such as basal cell degeneration.

LIPH mutations cause woolly hair in some Chinese people.

This case report describes a 9-month-old male infant with Netherton syndrome, highlighting the importance of early diagnosis and treatment initiation for better management of symptoms and prevention of misdiagnosis.

In this study, the authors emphasize the importance of accurately diagnosing congenital atrichia with papules—a condition marked by hair loss and papular skin lesions—differentiating it from other similar disorders to prevent unnecessary treatments and inform families about its benign but irreversible nature.

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.

This study found that using SH-SY5Y cell lysate in Western blot analysis may improve the diagnosis of Satoyoshi syndrome by providing more consistent and clear immunoreactive band patterns compared to brain homogenate, potentially leading to earlier diagnosis and treatment.

Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.

This case study reports a 20-year-old male with lifelong hair loss and unresponsive skin-colored papules, without other systemic abnormalities or similar family medical history.

This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This review supports an autoimmune hypothesis for Satoyoshi syndrome, noting associations with autoantibodies and autoimmune diseases, and reports an observed improvement in most patients with corticosteroid or immunosuppressant treatments.

This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

This case report describes an 11-month-old infant with Biotinidase deficiency who exhibited multifocal seizures, neuroregression, alopecia, and skin issues, highlighting prompt diagnosis and the dramatic clinical response to biotin treatment.

This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.

This report reviews the clinical presentation and genetic aspects of a case of acrodermatitis enteropathica in a one-year-old child but provides no new clinical findings.

This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.

In this observational study of 110 women with PCOS, the researchers found that 52.7% experienced depression and anxiety, with Metformin being the most prescribed drug. Regular counseling and lifestyle management were noted to improve the overall disease prognosis.

A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.

A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.

A woman was injured by a hedgehog falling on her, causing skin lesions but no disease.