23 citations
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August 1989 in “American Journal of Veterinary Research” In this study, high selenium diets from different sources caused weight and hair loss in pigs, with additional hoof and coronary band problems particularly in those fed sodium selenate.
This book chapter discusses the mechanisms and prevention of selenium toxicity in livestock and reports no new experimental results; it emphasizes reducing selenium in the human food chain through animal products.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
September 2025 in “Cureus” In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
April 2026 in “Diagnostics” In this case report, a 38-year-old woman with Parry–Romberg syndrome displayed left-sided facial atrophy and subclinical central nervous system involvement detectable by neuroimaging, suggesting that even symptom-free cases may benefit from systematic brain evaluations.
September 2023 in “Journal of the American Academy of Dermatology” Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
This case series reports favorable outcomes for children with Parry Romberg Syndrome who underwent facial fat-grafting, showing it as a safe and well-tolerated procedure with no complications or relapses observed.
August 2022 in “Brain and Development” In this case report, a nine-year-old girl with both chronic inflammatory demyelinating polyneuropathy and alopecia universalis showed improvement in muscle weakness and hair loss after treatment with intravenous immunoglobulin and corticosteroids.
This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.
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.
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.
170 citations
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May 1979 in “The journal of pediatrics/The Journal of pediatrics” This report describes two sisters with rickets and alopecia unresponsive to high doses of vitamin D2, where oral phosphorus supplements led to significant clinical improvement.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
February 2013 in “Pediatrics in Review” This case report details a 17-year-old girl experiencing intermittent swelling, pain, and decreased mobility in her right upper extremity with no clear traumatic or infectious cause, emphasizing diagnostic challenges due to inconclusive tests.
February 2024 in “Pediatric Dermatology” In this case report, the researchers identified pathogenic compound heterozygous mutations in a young girl with lipoid proteinosis, noting her relatively mild symptoms and recommending genetic testing for early diagnosis and management of this rare condition.
January 2022 in “Indian journal of paediatric dermatology” This case report details an unusual instance of multiple eruptive milia in an otherwise healthy 3-month-old baby, characterized by widespread distribution and believed to be idiopathic due to the absence of associated genodermatoses.
September 2020 in “Oral surgery, oral medicine, oral pathology and oral radiology” This case report describes a pilomatricoma in a 21-year-old woman, highlighting the diagnostic process and illustrating the potential for intraoral surgical access to minimize scarring.
44 citations
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July 2013 in “Journal of the American Academy of Dermatology” This review discusses various genetic and acquired conditions associated with poliosis circumscripta and reports no new clinical results.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
2 citations
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June 2013 in “Journal of Dermatological Case Reports” This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.
February 2022 in “Authorea (Authorea)” This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.
15 citations
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September 2018 in “Medicine” This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.
17 citations
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May 2007 in “British Journal of Dermatology” This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
November 2021 in “Research Square (Research Square)” This case report describes the first recorded instance of posterior cerebral artery dissection in a patient with childhood-onset systemic lupus erythematosus, which uniquely progressed from cerebral infarction to subarachnoid hemorrhage.
November 2024 in “Karnataka Pediatric Journal” Chikungunya can cause hyperpigmentation in children and should be considered in diagnosis.
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.