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This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.

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 study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

In this case report, adult-onset porokeratotic eccrine ostial and dermal duct nevus improved with topical tazarotene treatment, as evidenced by dermatoscopic images.

This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.

This report details a case of a 3-year-old child with Clouston syndrome, a rare inherited disorder affecting nails, skin, and hair, highlighting the need for supportive management due to the absence of treatment options.

This report discusses the accurate diagnosis of atrichia with papular lesions, emphasizing its distinction from alopecia universalis to prevent unnecessary steroid treatment, and presents a case matching APL diagnostic criteria.

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.

This case study reports the first instance of localized acquired hypertrichosis in a pediatric patient following splint application after forearm surgery, with hair growth returning to normal within eight months.

In this case study, the researchers reported that surgical debridement combined with targeted dermatological and antimicrobial therapy effectively managed chronic lower-limb wounds in a patient with keratitis-ichthyosis-deafness syndrome, underscoring the importance of a multidisciplinary approach in treating this rare condition.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.

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 report details a case of acrodermatitis enteropathica in a 4-month-old infant, noting the disorder's rarity and familial transmission, and includes a literature review with no new clinical results.

Hand-foot-mouth disease may cause nail loss in children.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.

This article reviews multiple noncutaneous manifestations of pityriasis rubra pilaris, such as subungual hyperkeratosis and hair loss, but reports no new clinical results.

This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.

This case study describes a unique instance of warty dyskeratoma involving two adjacent hair follicles within one lesion.

This report reviews the clinical presentation and genetic aspects of a case of acrodermatitis enteropathica in a one-year-old child but provides no new clinical findings.

This case report highlights the rare co-occurrence of Pili Annulati and Trichorrhexis Nodosa in a Syrian woman, underlining the need for further research into their relationship and treatment.

In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.