October 2024 in “GE Portuguese Journal of Gastroenterology” This case report describes a 78-year-old male with adenocarcinoma and Hypertrichosis lanuginosa acquisita, highlighting the need to consider malignancy in patients with unexplained excessive hair growth.
16 citations
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August 2017 in “Lupus” This case report and literature review highlights an unusual acne-like presentation of chronic cutaneous lupus erythematosus that doesn't improve with standard acne treatments, emphasizing the importance of considering CCLE in atypical acneiform eruptions.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This case report describes a five-year-old boy diagnosed with nevus comedonicus syndrome, a rare skin condition, characterized by asymptomatic skin lesions and a congenital cataract of the right eye, without inflammation or typical signs of related conditions.
September 2021 in “Journal of the American Academy of Dermatology” This study found that reported stress and hair growth changes related to facial/body hair excess or scalp hair loss differ among ethnic gender minority groups, with black and other ethnic respondents experiencing more stress compared to Caucasians, particularly in relation to facial/body hair excess.
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.
4 citations
,
March 2013 in “Neuropsychiatric Disease and Treatment” This case report describes a rare instance of a patient with anorexia nervosa who was subsequently diagnosed with Cushing's syndrome, highlighting diagnostic challenges due to overlapping symptoms.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
May 2025 in “The Journal of Rheumatology” This case report describes a patient with systemic lupus erythematosus whose unusual nephrological presentation led to a diagnosis of C3 glomerulopathy, highlighting the importance of considering atypical findings to broaden diagnostic approaches.
5 citations
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January 2011 in “Archives de Pédiatrie” This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
November 2022 in “Journal of the Endocrine Society” This case study reports a rare instance of an estradiol-secreting adrenocortical carcinoma in a 58-year-old male, causing feminization and Marie-Antoinette syndrome, with potential paraneoplastic aortitis.
October 2024 in “Journal of the Endocrine Society” This case report describes a patient with an ovarian steroid cell tumor that initially presented as non-classical adrenal hyperplasia, emphasizing the difficulty in differential diagnosis with hyperandrogenism and the importance of close clinical monitoring.
13 citations
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October 2000 in “International Journal of Dermatology” This case report describes a 6-year-old boy with Bloom syndrome characterized by distinct facial skin changes, delayed development, and a high frequency of sister chromatid exchanges.
13 citations
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May 1996 in “Archives of Disease in Childhood” This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.
October 2023 in “Journal of the Endocrine Society” This case report highlights the potential benefits of unilateral adrenalectomy in treating primary bilateral macronodular adrenal hyperplasia, noting a high rate of remission and low risk of recurrence.
16 citations
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June 1983 in “Journal of Neurochemistry” This study found that copper injections increased dopamine-β-hydroxylase activity in the brains of mottled mice, an animal model for Menkes' syndrome.
February 2025 in “American Journal of Biomedical Science & Research” This case report highlights two cases of alopecia areata in patients with celiac disease, noting the rare occurrence of one patient also having acquired hypertrichosis lanuginosa, which may be the first documented instance of this combination in the literature.
15 citations
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March 2004 in “British Journal of Dermatology” This case report describes a 40-year-old Indian male with sclerosing cholangitis whose skin lesions and liver function improved following surgical treatment.
July 2024 in “Journal of Investigative Dermatology” Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
10 citations
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April 2004 in “Journal of the American Academy of Dermatology” Localized hair growth and fat loss may share a common cause in lupus panniculitis.
65 citations
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December 1986 in “The Journal of Clinical Endocrinology & Metabolism” This study concluded that a 26-year-old woman had autosomal dominantly inherited hereditary cortisol insensitivity, leading to increased adrenocortical cortisol and androgen secretion, which caused clinical symptoms unlike in her male relatives.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
December 2023 in “Curēus” In this case study, a 36-year-old female with severe lupus enteritis and intestinal pseudo-obstruction showed significant clinical improvement after treatment with intravenous methylprednisolone, hydroxychloroquine, and cyclophosphamide, highlighting the complexities and challenges in diagnosing and managing atypical lupus manifestations.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.