5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
34 citations
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January 1998 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
14 citations
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January 1998 in “Dermatology” Polythelia pilosa is a type of extra breast tissue with hair and should be classified as such.
14 citations
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June 2005 in “PubMed” A rare ear cyst contained hair fragments.
2 citations
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July 2001 in “Dermatologic Surgery” Trichoblastic carcinoma may be a distinct type of skin cancer different from basal cell carcinoma.
August 2023 in “Journal of the European Academy of Dermatology and Venereology” Onycholemmal horn is a rare nail tumor in elderly women, treated by surgical removal.
2 citations
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June 2001 in “Medical Electron Microscopy” Trichilemmal cysts may form from hair follicle outer root sheath growth.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
January 2023 in “Journal of the College of Physicians and Surgeons Pakistan” A rare ovarian tumor was successfully treated with surgery and chemotherapy.
1 citations
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January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
21 citations
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
56 citations
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November 1958 in “The Journal of Cell Biology” A unique skin cell similar to hair bulb melanocytes was identified, with better preservation using permanganate fixation.
13 citations
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January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
3 citations
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March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
January 2024 in “Diagnostic cytopathology” Trichilemmal carcinoma can spread to the parotid gland and be diagnosed using fine-needle aspiration cytology.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
4 citations
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January 1981 in “PubMed” Hair medullary cells in mammals vary in complexity, with humans having more structured cells similar to inner root sheath cells.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
18 citations
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April 2002 in “Journal of cutaneous pathology” Tiny infundibular cysts are the main lesions in chloracne, not comedones.
3 citations
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March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
82 citations
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November 1985 in “Archives of Dermatology” The newborn's skin condition improved over time, leaving only lighter skin patches.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
January 2021 in “American journal of dermatological research and reviews” The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
January 2022 in “European journal of anatomy” A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.