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This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

This review provides a comprehensive overview of apoptosis-related molecules in head development, highlighting caspases' roles and associated abnormalities in tissues like the brain, sensory organs, skin, and bones, without reporting new results.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.

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 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 a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.

This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.

Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.

This study found that triiodothyronine and epidermal growth factor differentially affected craniofacial development in neonatal rats, with various impacts on hair growth direction, incisor eruption, and ear and eyelid development.

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

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.

In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.

Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.

Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.

Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.

This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

This review explores the similarities between wound healing, palatogenesis, and orofacial clefting, suggesting these processes share common pathways and genetic regulatory mechanisms, but reports no new experimental results.

This review examines recent literature on isotretinoin's teratogenic effects in both fertile females and males, analyzing its role in causing congenital malformations but provides no new clinical results.

This study found that patients with RASopathies have lower serum IgA and CD8 levels compared to controls, indicating a potential risk for developing autoimmune disorders.

This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.

This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This study found that AP-2α and AP-2β transcription factors are crucial for maintaining adult skin homeostasis, with their inactivation in keratinocytes leading to impaired differentiation, hair abnormalities, and inflammation, highlighting their key regulatory roles.

In this study on adult-onset, whole body Spry1/2/4 triple knockout mice, researchers observed endocrine abnormalities and no increased tumor incidence, despite similar food intake and motor function.

This case report describes a unique instance of an otherwise healthy infant with phylloid terminal hair nevus, a form of hypomelanosis without extracutaneous abnormalities.