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This report describes a patient with trichothiodystrophy exhibiting both specific hair abnormalities and developmental delay, contributing to the understanding of this rare disorder's clinical presentation.

This study reports that the maintenance and morphogenesis of skin appendages rely on both the dose and duration of ectodysplasin signaling.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.

This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.

In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

This case study describes a young woman with a unique syndrome combining lamellar ichthyosis, neuroectodermal and mesodermal defects, and hair with trichoschisis and low sulfur content.

The authors reviewed cases of six children with both hair-shaft abnormalities and neurological disorders, noting that such hair defects may indicate neurological conditions, including potentially treatable metabolic errors.

This study evaluated 386 patients with inborn errors of immunity and found that over half exhibited cutaneous, ocular, or hair manifestations, with bacterial skin infections and eczema being particularly prevalent. These findings may aid early diagnosis, especially in pediatric cases.

In this study, researchers engineered ventral skin organoids (vSkOs) with specific cellular compositions and signaling environments to generate human amnion-like tissues called Amnioids, offering new tools for studying human development and potential regenerative therapies.

This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.

In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.

Hair malformations may occur due to timing issues in hair development.

This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.

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.

This study found that activating the erbB-2 oncogene in transgenic mice led to severe skin abnormalities and fatal defects, indicating erbB-2's significant role in skin and hair follicle development.

This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.

This article discusses various skin pattern formations, their molecular mechanisms, and highlights the need for further understanding to connect molecular biology with organism phenotypes, without providing new clinical findings.

This article presents a case of an 8-year-old boy with Recklinghausen's disease showing features such as café-au-lait spots, alopecia, and developmental anomalies, but reports no new findings beyond observation.

In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.

This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.

This case report describes a 5-day-old male infant with a constellation of symptoms, including leptomeningeal angiomatosis, hair follicle nevus, and congenital alopecia, potentially representing a novel neurocutaneous syndrome.

This case report describes a unique lesion in a 10-month-old girl, characterized by increased eccrine glands and hair follicles, leading to the proposed term "hybrid eccrine gland and hair follicle hamartoma".

This study describes five patients with porokeratotic adnexal ostial nevus, a rare skin disorder, highlighting its clinical features and proposing a new encompassing term for related 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.

This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.

This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.