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This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.

This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.

This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.

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 describes four patients with hypertrichosis cubiti and short stature, but could not determine a genetic link between hypertrichosis cubiti and skeletal dysplasia.

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 article reports a case of a 14-month-old child with a constriction ring syndrome caused by tightly wrapped hair, highlighting the importance of early recognition and treatment to prevent serious complications.

This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This article reviews the evolution of syndactyly repair techniques, highlighting a shift towards graftless approaches to avoid complications associated with skin grafts, but reports no new clinical outcomes.

In this study, researchers found that the congenital absence of the palmaris longus muscle was relatively uncommon and showed no significant differences according to sex, side, or digit ratio (2D:4D) among individuals assessed using MRI and radiographs.

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 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.

This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.

This case report describes a rare occurrence of pincer nail deformity in a patient with systemic lupus erythematosus, potentially linked to Raynaud's phenomena as a contributing factor.

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.

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This report on a 37-year-old patient found that trichorhinophalangeal syndrome type I is associated with hair abnormalities, including fine and brittle hair with altered biomechanical properties, but no treatment exists for the hair defects.

This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.

This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.

This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This article describes a case of dyschromatosis universalis in a young Saudi Arabian girl, discussing similar cases reported outside the Far East where the condition was initially identified, but provides no new research findings.

This case report highlights a 12-year-old boy with twenty nail dystrophy in isolation, emphasizing the need for thorough physical exams to distinguish nail disorders and provide appropriate management and counseling on the condition's benign nature and good prognosis.

This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

This case report describes a unilateral contact dermatitis caused by shoe dye containing 4-aminoazobenzene, which was confirmed with patch testing, highlighting its atypical presentation.

This article reports a case of hair tourniquet syndrome in a child's toe, successfully treated surgically, and emphasizes the need for healthcare providers to be aware for early detection and treatment.