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This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.

People with certain hair disorders may also have missing permanent teeth.

This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.

This study suggests that biotin therapy may be beneficial for individuals with partial biotinidase deficiency, as some developed symptoms later, which resolved with treatment.

This case report describes a 10-month-old boy with dermatitis, alopecia, and hypotonia who showed dramatic improvement with oral biotin, suggesting a possible defect in biotin absorption or transport.

This study reported successful treatment of biotin deficiency in three patients receiving total parenteral nutrition, suggesting current biotin supplementation recommendations may be inadequate to maintain normal biotin status.

This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.

In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

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 study reports a two and a half-month-old with biotinidase deficiency who showed rapid seizure improvement with biotin treatment after presenting with convulsions and neurological symptoms.

This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This study found that while biotin treatment improves clinical and biochemical symptoms in patients with biotinidase deficiency, some experience lasting neurological damage, and it is uncertain if early treatment can prevent this.

This case report describes a 5-year-old girl with biotinidase deficiency who had acute visual loss and gait disturbance but no typical symptoms, responding well to biotin therapy.

This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.

This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.

This case report details a family in Iraq with biotin deficiency, highlighting improved outcomes in surviving children following diagnosis and lifelong biotin supplementation.

This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This study found that an 11-month-old Japanese infant developed biotin deficiency while on a Japanese amino acid formula without biotin, which was resolved with biotin supplementation.

This case study describes a three-year-old girl who developed acute hepatitis and pancytopenia, potentially due to chronic use of Senna, highlighting possible liver and bone marrow toxicity.

This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.

This abstract discusses pellagra as a nutritional disorder characterized by a known set of symptoms but reports no new clinical findings; the authors review existing knowledge and suggest further research.

This study found that mitochondrial oxidative phosphorylation in epithelial cells is necessary for proper enamel formation and odontoblast differentiation in developing incisor teeth in K320E-Twinkle Epi mice.

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 study demonstrates the potential of using bioengineered follicles from adult tissue-derived stem cells for fully functional hair regeneration, illustrating possible applications in organ replacement therapy.

This study demonstrated that bioengineered hair follicles reconstituted from embryonic skin cells and transplanted into hosts can restore physiological hair functions, suggesting potential applications for treating alopecia.