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This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.

This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

This abstract does not provide specific study results or findings, but it notes that the publisher is not responsible for the supplemental content's accuracy and functionality, directing any queries to the article's corresponding author.

This case report describes a weaning infant diagnosed with Brandt syndrome displaying periorificial dermatitis and rapid symptom improvement following zinc supplementation.

This case report describes a 1.5-month-old baby with Schimmelpenning-Feuerstein-Mims syndrome, manifested by skin and ocular abnormalities along with developmental delays and hearing loss observed later, highlighting the syndrome's progression and need for multidisciplinary management.

This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.

This study highlights a case of a 12-day-old female with Bloch-Sulzberger Syndrome, underscoring the need for early diagnosis based on skin symptoms to manage potential complications in other organs effectively.

This review summarizes current knowledge about Birt–Hogg–Dubé syndrome, discussing recent findings on its pathogenesis and treatment, but reports no new clinical results; the authors emphasize understanding its cutaneous manifestations.

This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.

This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.

This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.

This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.

This case report describes an 11-month-old infant with Biotinidase deficiency who exhibited multifocal seizures, neuroregression, alopecia, and skin issues, highlighting prompt diagnosis and the dramatic clinical response to biotin treatment.

This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.

This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.

This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.

In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.

This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.

This case report describes a 9-month-old male infant with Netherton syndrome, highlighting the importance of early diagnosis and treatment initiation for better management of symptoms and prevention of misdiagnosis.

This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

In this case report, a 40-year-old woman with systemic lupus erythematosus developed Type B Insulin Resistance Syndrome, characterized by severe hyperglycemia despite high insulin doses, requiring immunosuppressive therapy to manage refractory symptoms.

This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.