2 citations
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November 2024 in “Acta Dermato Venereologica” In this case report, researchers describe an adult patient with CHILD syndrome whose skin lesions were successfully managed with topical ketoconazole, marking the first known instance of using this treatment without recurrence during follow-up.
6 citations
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January 2013 in “Urology” This case report describes an 8-year-old child with penile tourniquet syndrome due to a constricting thread, which led to partial distal penile amputation and required surgical intervention.
August 2023 in “Indian journal of pediatrics/Indian Journal of Pediatrics” Topical treatments helped a child with Down syndrome and severe hair loss regrow most of his hair.
January 2018 in “Indian Dermatology Online Journal” This case report describes a rare instance of Olmsted syndrome with hypotrichosis in a 5-year-old boy, noting mild improvement in symptoms following treatment with oral acitretin and other interventions.
September 2025 in “OBM Genetics” 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.
February 2026 in “Medico Research Chronicles” In this case study, a 7-year-old boy with Down syndrome and alopecia areata experienced notable hair regrowth, improved gut function, and emotional stability with individualized homeopathic treatment, whereas prior allopathic approaches were ineffective.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” In this case report, a 2-year-old boy initially diagnosed with Sweet syndrome was later found to have chronic granulomatous disease, highlighting the importance of considering CGD in unusual cases of Sweet syndrome.
4 citations
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May 2012 in “BMJ Case Reports” This case report describes a male infant born to a mother with systemic lupus erythematosus, presenting with neonatal lupus, who improved with conservative management and whose skin lesions resolved by 6 months of age.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” 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.
7 citations
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August 2008 in “Cases Journal” 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.
July 2026 in “Clinical Cosmetic and Investigational Dermatology” In this case report, a 9-year-old boy with Sjogren-Larsson syndrome was also diagnosed with central precocious puberty, showing genetic mutations and increased hormone levels; he was treated with triptorelin acetate for CPP but experienced growth delay during follow-up.
January 2025 in “International Journal of Trichology” This report describes a rare case of loose anagen hair syndrome in a young Indian child, highlighting its clinical and trichoscopic features.
January 2025 in “Figshare” This case report describes a 17-month-old girl who experienced sudden hair whitening during septic shock, suggesting systemic stress may trigger canities subita in young children and highlighting the need to distinguish it from congenital pigment dilution syndromes.
January 2025 in “Figshare” In this case study, a 17-month-old girl experienced sudden hair depigmentation during septic shock hospitalization, suggesting systemic stress as a potential trigger for pediatric canities subita associated with diffuse alopecia areata.
December 2025 in “Skin Appendage Disorders” This case report, one of the youngest on record, suggests that systemic stress might trigger pediatric sudden hair graying linked with diffuse alopecia areata, emphasizing the need to differentiate it from congenital silvery hair syndromes due to their distinct prognosis and treatment options.
January 2023 in “Indian dermatology online journal” 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.
February 2010 in “Journal of The American Academy of Dermatology” This study found that among Chinese patients with alopecia areata, those with alopecia totalis/universalis had an earlier onset, longer duration, and more severe quality of life impact compared to those with patchy alopecia.
January 2026 in “Medico Research Chronicles” In this case study, a 7-year-old boy with Down syndrome and conditions like alopecia areata and gluten intolerance showed hair regrowth, improved gut function, and emotional stabilization following individualized homeopathic treatment, succeeding where prior allopathic interventions failed.
July 2026 in “Indian Journal of Dermatology Venereology and Leprology” June 2026 in “Clinical Case Reports” This case report observed a 5.5-year-old girl with Ectodermal Dysplasia-Syndactyly Syndrome 1, who experienced improved hair density and thickness with topical minoxidil and tretinoin, suggesting a potential adjunctive role for topical retinoids, though confirmation in larger studies is needed.
January 2025 in “Genetics in Medicine Open” In this case report, a 33-year-old male with symptoms resembling Neuromyelitis Optica was treated with 10 mg biotin daily, which may reverse certain ophthalmologic and myelopathy findings. The researchers emphasize the need for further research on biotinidase deficiency in patients misdiagnosed with similar conditions.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
8 citations
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June 2016 in “Journal of Pediatric Orthopaedics B” This paper presents two cases of hair tourniquet syndrome and suggests washing baby socks inside out as a potential preventative measure.
August 2022 in “Archives of pediatric surgery” This article reviews cultural differences in the incidence of hair-thread tourniquet syndrome and finds it may be less prevalent in Iranian children compared to Europe, possibly due to social and cultural factors.
9 citations
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December 2015 in “Journal of Dermatological Case Reports” A 12-year-old with ichthyosis linearis circumflexa showed significant improvement after 30 sessions of narrowband UVB phototherapy, as reported in this case study.
1 citations
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April 2020 in “Asian Journal of Medicine and Biomedicine” 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.
January 2023 in “Integrative Journal of Medical Sciences” This report presents a case of a child with hypothyroidism and poorly controlled type 1 diabetes developing both Mauriac syndrome and Van Wyk–Grumbach syndrome, two rare complications.
37 citations
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March 2005 in “Journal of Paediatrics and Child Health” This case report and review discuss hair-thread tourniquet syndrome in a 14-year-old autistic child, highlighting its rarity and the misconception of it being linked to abuse or socio-cultural practices.
3 citations
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June 2023 in “American Journal of Forensic Medicine & Pathology” This case report documents a rare fatal instance of Rapunzel syndrome in a child, highlighting the use of postmortem CT and MRI to reveal trichobezoar-related bowel obstructions and perforations as the cause of death.