April 2018 in “Nasza Dermatologia Online” This case report describes an 8-year-old child with Down's syndrome who presented with eruptive syringomas on the face and hand.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” In this study, a case of a 20-year-old woman revealed ectopic acanthosis nigricans at a post-syndactyly-release surgical site, suggesting this rare condition could result from epidermal–dermal mismatch and altered growth factor signaling in grafted skin, without indicating any metabolic or malignancy concerns.
June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
13 citations
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September 2011 in “Archives of dermatology” 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.
38 citations
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May 1982 in “PubMed” This report describes almost complete resolution of calcinosis and healing of associated ulcers in an 83-year-old woman with localized scleroderma after repeated intralesional steroid injections.
8 citations
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December 1997 in “International Journal of Dermatology” This case report describes a 30-year-old man's scleroderma-like skin changes and segmental thrombosis in the left leg, along with elevated blood sugar and advised weight management and limb care.
December 2025 in “Philippine Journal of Internal Medicine” This case report describes a 45-year-old woman with an SLE-SSc overlap syndrome who experienced significant improvement in symptoms after tailored immunosuppressive therapy including prednisone and mycophenolate mofetil.
20 citations
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January 1997 in “Dermatology” This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
27 citations
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June 1989 in “Journal of Medical Genetics” This case report describes four patients with hypertrichosis cubiti and short stature, but could not determine a genetic link between hypertrichosis cubiti and skeletal dysplasia.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” This report discusses a teenager with blistering of localized epidermolysis bullosa simplex—Weber Cockayne type, recommending referral to dermatology, and includes no new clinical trials or broader conclusions.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
1 citations
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January 2018 in “ARC Journal of Dermatology” A patient had both chronic lupus and systemic scleroderma, requiring careful treatment to manage symptoms.
October 2020 in “Pediatrics in Review” This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
January 2025 in “Indian Dermatology Online Journal” This case report describes a 27-year-old female with systemic lupus erythematosus who presented with chilblain lupus erythematosus and melanonychia striata, emphasizing the rarity of such presentations in SLE patients.
In this case report, a 59-year-old woman experienced burning sensations and developed atrophic, hypopigmented, ivory papules and plaques on her palms and soles over three years, which worsened after walking for extended periods.
12 citations
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May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
4 citations
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December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
6 citations
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January 1997 in “Pediatric dermatology” This case report highlights a 21-year-old man with severe nodulocystic acne resistant to conventional treatments, who showed moderate improvement with isotretinoin, and discusses its potential link to congenital digital abnormalities and Apert syndrome.
August 2023 in “Rheumatology” In this case report, researchers describe a 17-year-old African male with an overlapping condition of juvenile dermatomyositis and systemic scleroderma, highlighting the importance of thorough history-taking and physical examination for accurate diagnosis and suggesting early referral to a pediatric rheumatologist to prevent severe outcomes.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” 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.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
10 citations
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July 2001 in “PubMed” This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
148 citations
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February 2005 in “Autoimmunity Reviews” This article discusses the distinct skin findings associated with lupus erythematosus, noting that some are specific to lupus while others are nonspecific and occur with various diseases; it reports no new results.
144 citations
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September 2006 in “Clinics in Dermatology” This article outlines manifestations of systemic lupus erythematosus, noting rapid joint symptom improvement with corticosteroids and antimalarial drug responsiveness for skin symptoms, and links anti-Ro with photosensitive rash and subacute lupus.