7 citations
,
April 2021 in “Journal of Lower Genital Tract Disease” This study concluded that erosive lichen sclerosus is a distinct subtype marked by red patches on hairless skin, while ulcerated lichen sclerosus typically results from trauma in uncontrolled dermatosis.
7 citations
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July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” In this study, symmetrical acrokeratoderma was observed to frequently occur alongside ichthyosis vulgaris, with no specific therapy available for the condition.
April 2024 in “African Journal of Biological Sciences” This case report describes a patient with systemic lupus erythematosus who developed Degos disease and non-scarring alopecia, highlighting dermoscopy's role in diagnosis and treatment prognosis.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
July 2021 in “British Journal of Dermatology” This case report describes a novel instance of scarring alopecia with features of frontal fibrosing alopecia in a patient with systemic sclerosis, suggesting a potential link between the two conditions not previously reported.
May 2025 in “The Journal of Rheumatology” This case report describes a 32-year-old Filipino female with mixed connective tissue disease who sequentially developed distinct autoimmune disorders over seven years, highlighting the complexities in diagnosis and management of overlap syndromes.
9 citations
,
October 1995 in “Clinical Dysmorphology” This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
3 citations
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September 2018 in “JAAD case reports” This case report discusses a rare occurrence of systemic sclerosis with lupus erythematosus panniculitis in a Japanese patient and highlights hydroxychloroquine as a potential treatment, noting a dramatic improvement.
June 2023 in “Romanian Medical Journal” In this case study, a 53-year-old female with multiple autoimmune symptoms was diagnosed with Mixed Connective Tissue Disease, confirmed by specific antibodies, and showed significant clinical improvement after one year of treatment.
October 2023 in “Indian Dermatology Online Journal” 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.
August 2020 in “International Journal of Research in Dermatology” This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.
November 2020 in “Acta Medica Bulgarica/Acta medica Bulgarica” This case report details two patients with Graham-Little-Piccardi-Lassueur syndrome who showed marked skin lesion improvement with corticosteroid treatment, though cicatricial scalp alopecia remained unresponsive.
18 citations
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June 2014 in “Anais Brasileiros de Dermatologia” This case report describes a patient with Clouston Syndrome who developed eccrine syringofibroadenoma, marking only the fourth such association documented in existing literature.
January 1962 in “Archives of Dermatology” This case report describes a 5-year-old girl with lipoid proteinosis, characterized by a raspy voice, thinning scalp hair, and recurrent crusted lesions leading to pock-like scars.
3 citations
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January 2000 in “Journal of Dermatological Treatment” In this case study, calcitriol treatment led to improvement in scleroderma symptoms and partial hair regrowth in a 20-year-old girl after other treatments had failed.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
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.
41 citations
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August 1988 in “Journal of The American Academy of Dermatology” In this case report, a patient with subacute cutaneous lupus erythematosus and exfoliative erythroderma achieved complete remission with systemic corticosteroids and long-term hydroxychloroquine.
1 citations
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January 1999 in “Dermatology”
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.
October 2022 in “International journal of research in dermatology” This case report documents a 31-year-old woman with bullous SLE who showed improvement with high-dose parenteral steroids and dapsone, with ongoing follow-up due to potential kidney involvement.
January 2024 in “Revista Dermatológica Centro Uraga” This case report describes a 68-year-old woman diagnosed with chronic cutaneous lupus, characterized by irregular plaques with distinct pigmentation and scarring alopecia, confirmed through histopathology revealing specific skin changes.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” This review discusses Graham-Little Piccardi-Lasseur syndrome, a rare dermatosis with limited treatment options, emphasizing the importance of early diagnosis through physical exam and dermoscopy, but reports no new results.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
1 citations
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January 1986 in “PubMed” 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.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.