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In this case report, a 38-year-old woman with Parry–Romberg syndrome displayed left-sided facial atrophy and subclinical central nervous system involvement detectable by neuroimaging, suggesting that even symptom-free cases may benefit from systematic brain evaluations.

This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.

This review discusses the role of the EGF receptor/ligand system in skin homeostasis and its implications for keratinocyte stem cells and reports no new clinical results.

Male infertility and genitourinary birth defects are often linked to genetic issues.

This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.

This review examines the role of stem cells and their niches in continuously growing ectodermal organs like teeth, hair, and claws, providing insights from mouse models without presenting new research findings.

This paper discusses the use of dermatoscopy as a fast, noninvasive technique for diagnosing hair shaft disorders and reports no new results; the authors highlight its advantages over traditional microscopy methods.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.

In this study, both 2.5% benzoyl peroxide gel and 0.1% adapalene gel exhibited comedolytic effects on the spontaneous comedogenic rhino mouse model.

Reconstruct lips with proper planning, templates, and revisions for appearance and function.

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

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

Achieving perfect facial plastic surgery requires personalized plans, proper patient selection, advanced techniques, and ongoing surgeon education.

This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.

This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.

This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.

A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.

This study found that αvβ6 integrin inhibits keratinocyte proliferation during wound healing and hair regeneration, suggesting its downregulation may enhance recovery and influence epidermal stem cell behavior.

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.

This research outlines how retinoids, compounds based on vitamin A, activate nuclear receptors to influence cellular processes such as differentiation and carcinogenesis, with benefits like anti-inflammatory properties but requiring careful management of dose-dependent side effects.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.

This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

This study reports previously unrecognized cellular complexity in growing mouse incisors, suggesting species-specific differences in cell dynamics between mouse and human teeth related to growth and differentiation.