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In this case report, a 2.5-year-old boy with biotinidase deficiency, initially misdiagnosed due to overlapping symptoms, showed dramatic improvement in several clinical areas after starting biotin supplementation, but persistent sensorineural hearing loss underscored the importance of early diagnosis for preventing irreversible complications.

In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.

This report presents a case of a child with hypothyroidism and poorly controlled type 1 diabetes developing both Mauriac syndrome and Van Wyk–Grumbach syndrome, two rare complications.

This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene.

This case report describes an 8-year-old girl with atrichia congenita characterized by complete hair loss and papular lesions, attributed to an insertion mutation in the hairless gene.

A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.

This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.

This case report presents an 8-year-old girl with congenital atrichia, marked by complete hair loss and papular lesions, linked to mutations in the human hairless gene.

This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.

Two siblings have a rare genetic condition causing curly, coarse hair.

This case report details a 17-year-old boy diagnosed with atypical juvenile pityriasis rubra pilaris (type 5) after presenting with persistent itchy skin lesions since age seven.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

This study found that trilostane was effective in resolving symptoms such as polyuria and polydipsia in many dogs with pituitary-dependent hyperadrenocorticism, with significant hormone level reductions observed.

This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.

This study found that combining oral finasteride with topical minoxidil resulted in the greatest improvement in hair growth for male patients with androgenetic alopecia, compared to using any single treatment.

The authors concluded that liver transplantation in children with propionic acidemia can reduce the risk of metabolic decompensation and enhance quality of life, although some metabolic issues may persist.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.

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 article reviews fetal scalp hair formation and related disorders but reports no new research results.

This review discusses the clinical and molecular history of 5-alpha reductase deficiency, highlighting its role in male sexual differentiation and potential therapeutic applications, but reports no new research outcomes.

This article reviews various topics discussed at a workshop on hair disorders, focusing on hair biology, diagnosis, and challenges in therapy evaluation, without presenting new clinical findings.

This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.

This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.

This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.

This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.

This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.