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Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

The document concludes that an inherited nail condition often improves on its own, and spironolactone effectively treats acne in women.

This study found that patients with myotonic dystrophy type 1 developed basal cell carcinomas at a younger age than the general population, suggesting a possible predisposition in this group.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This study found that among patients with twenty-nail dystrophy, those treated with oral cyclosporine in combination with a dietary supplement showed significantly better improvement in nail condition and quality of life than those treated with the supplement alone.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.

This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

Hydroxychloroquine effectively treated twenty-nail dystrophy in a patient with alopecia areata.

In this case study, the coexistence of thymoma-associated myasthenia gravis, alopecia areata, and twenty-nail dystrophy in a patient is reported, suggesting thymoma may increase the risk of developing these conditions.

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.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

This case report found that a 48-year-old woman with idiopathic twenty-nail dystrophy experienced significant improvement in nail appearance after six months of treatment with oral Upadacitinib.

In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

This case report outlines a 10-year-old boy who experienced a six-year history of twenty-nail dystrophy, highlighting the importance of physical examination for early diagnosis and management of nail disorders, with his primary symptoms involving nail disfigurement and alopecia areata, but no other health issues.

This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.

This case report describes a 6-year-old child with twenty nail dystrophy and alopecia areata of the scalp.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This review found that glucocorticoid corticosteroids can improve muscle strength and function in boys with Duchenne muscular dystrophy in the short term, but they are associated with significant short-term adverse effects.

This review examines current knowledge and treatment strategies for complex regional pain syndrome type I in adults, emphasizing clinical aspects and highlighting the lack of consensus on therapeutic approaches, without presenting new clinical 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 review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.

This study reports that polyphenols from Annurca apples may safely promote hair growth and protect against chemotherapy-induced alopecia without interfering with chemotherapy regimens.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This meta-analysis reported no significant improvement in muscle strength or mobility with glucocorticoid treatment for progressive muscular dystrophy but observed an increase in adverse effects like acne and emotional irritability.

This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.