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This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.

This case report describes a 19-year-old female with systemic lupus erythematosus who exhibited eyelash trichomegaly, a rare disorder involving changes in eyelash characteristics, alongside diffuse alopecia.

This case study documents a boy with zinc-responsive acral hyperkeratosis improving significantly after zinc supplementation, suggesting it could result from inadequately treated acrodermatitis enteropathica.

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.

This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.

This case report highlights that inherited zinc deficiency can persist into adulthood and emphasizes the importance of selecting optimal chelating agents to improve oral zinc bioavailability.

This article reviews monilethrix, a rare genetic hair disorder causing brittle hair and alopecia, and emphasizes the need for clinical diagnosis and characteristic tricoscopic findings.

This article discusses monilethrix, a rare human hair dysplasia caused by mutations in hair keratins, but reports no new clinical findings.

This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.

This case report describes a 5-year-old boy with a solitary patch of hair loss, potentially linked to a fungal infection after antibiotic treatment showed minimal effectiveness.

This case report describes a 3-year-old boy with atrichia with papular lesions, emphasizing that dermoscopy, showing the 'cluster of stars' appearance, facilitated diagnosis without needing a skin biopsy.

This study found that the weak tensile strength of pili torti hair may result from loose keratin intermediate filaments due to abnormalities in disulfide bonds.

In this study, an 11-year-old girl with acrodermatitis enteropathica showed significant improvement in symptoms after oral zinc therapy.

This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.

This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.

This report describes a 23-year-old man with alopecia areata universalis who experienced severe nail abnormalities, which improved with systemic steroids, benefiting his work as a card illusionist.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This case study presents a 9-month-old male infant with symptoms suggesting a likely diagnosis of Hay–Wells syndrome, including severe scalp crusting, nail abnormalities, and partial syndactyly.

This case report describes the diagnosis of monilethrix in a 2-year-old boy using trichoscopy, highlighting its rarity and the challenge of diagnosing it without a family history.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

This case study documented a black male newborn developing large bullae that healed with hypopigmentation, suspecting proteolytic enzymes in keratinocytes caused the collagenolysis responsible for the condition.

Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This case study reports that zinc supplementation significantly improved the symptoms of Acrodermatitis Enteropathica in a 12-year-old boy, emphasizing the importance of early diagnosis and treatment compliance.

This article discusses the characteristics and challenges of treating ulerythema ophryogenes, noting the limited effectiveness of emollients, vitamin A, retinoids, and transient response to corticosteroids, with some success using dye laser therapy.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

This report describes several cases of pili annulati in children, highlighting its genetic predisposition and distinctive "zebra stripe" hair pattern, but notes no effective treatment is available.

This case report describes a 7-year-old female from the Middle East with monilethrix, highlighting the disease's rarity in this population, characterized by brittle, sparse hair and keratosis pilaris.