January 2024 in “Indian Journal of Dermatology” Unilateral keratosis follicularis squamosa may be a new subtype, successfully treated with asiaticoside ointment.
67 citations
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May 2019 in “British Journal of Dermatology” People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
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.
September 2024 in “Journal of Medical Case Reports” People with keratosis pilaris might be more likely to get a rare type of tinea versicolor.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
August 2025 in “Frontiers in Immunology” Primary cicatricial alopecia is linked to various health issues, indicating broader systemic problems.
4 citations
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January 2023 in “Indian Dermatology Online Journal” A simple test can help diagnose a rare bruising disorder after ruling out other causes.
September 2024 in “Medicine theory and practice” A young girl's hyperandrogenism was caused by an adrenocortical adenoma, diagnosed and treated through detailed evaluations.
December 2023 in “Curēus” A woman with lupus had rare severe symptoms but improved with treatment.
39 citations
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March 1997 in “The Lancet” Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.
January 2020 in “Emergency Medicine News” Early diagnosis, decontamination, and supportive care are crucial for managing acute radiation syndrome.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
16 citations
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June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
December 2021 in “Aegean journal of obstetrics and gynecology” A woman's male-like physical changes were caused by two rare ovarian conditions.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
May 2018 in “Dermatologic Surgery”
55 citations
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August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
2 citations
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July 2017 in “Oman medical journal” A man with a rare adrenal cancer showed unusual symptoms and died four months after diagnosis.
2 citations
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August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
17 citations
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January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
1 citations
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January 2023 in “Przegląd Dermatologiczny” A man's severe skin reaction from cancer treatment improved with early diagnosis and proper medication.
June 2026 in “The Journal of Dermatology” 175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.