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This case report describes a 36-year-old Pakistani phenotypic female diagnosed with 46,XY 5-alpha-reductase deficiency, highlighting that such disorders of sexual development can manifest with symptoms like obesity, hirsutism, and amenorrhea later in life due to unique circumstances.

This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.

This case report details a woman with postural orthostatic tachycardia syndrome who experienced notable dermatological symptoms, including evanescent hyperemia, which improved with the use of an oral angiotensin II type 1 receptor antagonist.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

A specific gene mutation causes sparse, brittle hair in a family.

This review discusses the potential role of autonomic dysfunction and sympathetic overactivity in hypertension development and reports no new results; renal denervation therapies have gained popularity for resistant cases.

Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

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.

This case report describes a woman diagnosed with paraneoplastic autoimmune multiorgan syndrome associated with Castleman's disease, leading to constrictive bronchiolitis and multiple organ involvement despite corticosteroid treatment.

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.

This report describes a 3.5-year-old girl with argininosuccinicaciduria, highlighting congenital trichorrhexis nodosa as a notable feature associated with the disorder.

This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.

This study reviewed data from three hospitals and found that alopecia after DRESS occurred more often in severe cases, but the rate of corticosteroid treatment did not significantly differ between patients with and without alopecia.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

This study found that dexpanthenol treatment reduced inflammation, oxidative stress, and apoptosis in rats, providing a protective effect against lipopolysaccharide-induced cardiac and endothelial damage.

In this study, a case of dissecting cellulitis of the scalp was reported in a man after starting dupilumab therapy, highlighting potential immune pathways involved and the importance of recognizing such paradoxical inflammatory reactions to prevent irreversible alopecia.

This study concluded that a 26-year-old woman had autosomal dominantly inherited hereditary cortisol insensitivity, leading to increased adrenocortical cortisol and androgen secretion, which caused clinical symptoms unlike in her male relatives.

This study suggests that stress-associated hair loss may occur due to increased androgen receptor expression and activity induced by dexamethasone in human and mouse dermal papilla cells.

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.

This case report highlights a rare instance of diffuse alveolar hemorrhage in a patient with catastrophic antiphospholipid syndrome, emphasizing the importance of early recognition and multidisciplinary management.

This case study describes an extremely rare instance of androgen-secreting adrenocortical carcinoma in a patient with non-classical congenital adrenal hyperplasia.

This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This veterinary case study of a dog with myxedema coma found clinical and pathologic changes including severe thyroid atrophy and marked atherosclerosis consistent with the diagnosis.

In this study, echocardiographic measures of cardiac function in women with polycystic ovary syndrome were found to be similar to those of healthy women.

This report describes two cases of aplasia cutis congenita with hair collar signs and hemangioma, which may suggest neural tube defects, although imaging showed no bone or neural tissue abnormalities.

This review compiles data on how the apelinergic system may protect against heart damage caused by doxorubicin cancer treatment, suggesting its potential to mitigate cardiotoxicity, though further research in chronic models is needed to confirm these effects and mechanisms.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.