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This study found that men with X-linked recessive ichthyosis did not show mutual exclusivity with androgenetic alopecia, as some exhibited advanced hair loss.

This hypothesis paper proposes that men with X-linked recessive ichthyosis may exhibit no androgenetic alopecia or only mild forms, and suggests clinical studies to evaluate this hypothesis.

This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.

This study reviewed 26 cases of X-linked recessive ichthyosis and observed 11 patients with advanced-stage androgenetic alopecia, suggesting a compensatory role of two steroid biosynthesis pathways.

This source reports that four weeks of dupilumab treatment led to notable improvement in skin lesions, including multiple erythematous patches and papules on the face, back, and limbs.

In this study, the researchers used structural studies and molecular calculations to suggest that the enzyme in RXLI patient hair follicles is less efficient, rather than completely inactive.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.

This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.

This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.

This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

This case report concluded that undiagnosed Menkes disease, an X-linked disorder causing copper deficiency, contributed to a 7-month-old's illness and death, complicating his presentation with viral septic shock and methamphetamine exposure.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.

This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This report presents a case of IFAP syndrome with the typical symptoms of alopecia universalis, severe photophobia, and follicular ichthyosis, but provides no additional clinical findings or conclusions.

This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.

This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.

This study found that men with adrenomyeloneuropathy often experience diffuse hair loss and severe male-pattern baldness, potentially due to the X-linked ALD mutation's role in androgenetic alopecia's genetic spectrum.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.

This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.

This study highlights a case of a 12-day-old female with Bloch-Sulzberger Syndrome, underscoring the need for early diagnosis based on skin symptoms to manage potential complications in other organs effectively.

This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This study identified a mutant in Arabidopsis with shorter root hairs due to early growth cessation, implicating the IRE gene in regulating root hair growth duration.