research Lichen planopilaris
A 20-year-old had hair loss and skin issues from lichen planopilaris starting at age 10.
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510-540 / 1000+ resultsresearch BULLOUS LUPUS, AN UNCOMMON CAUSE OF ATYPICAL ESOPHAGITIS: A CASE REPORT
Bullous lupus can cause severe esophageal issues but responds well to corticosteroids and azathioprine.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Lipedematous alopecia, an entity on the rise
A 59-year-old woman was diagnosed with a rare hair loss condition called lipedematous alopecia.
research Linear Cutaneous Lupus Erythematosus Following Blaschko’s Lines on the Scalp: Additional Cases and Review of the Literature
Linear cutaneous lupus erythematosus on the scalp is rare, often affects young Asians, and can be treated with specific medications.
research Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions
Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Bone infarcts in a woman with systemic lupus erythematosus and antiphospholipid antibody syndrome
A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea
First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
research [A systemic lupus erythematosus patient with multiple aseptic bone necroses, thrombosis of superior mesenteric artery and anti-phospholipid antibody].
Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.
research Different Patterns of Lichen Planus in Three Members of One Family
Lichen Planus in siblings may be influenced by genetics and environment.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research Linear and Annular Lupus Panniculitis of the Scalp with Annular Lupus Panniculitis of the Face in a Child
A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research 838 Histologic and immunohistochemical evaluation of Lichen Planopilaris and correlation with clinical disease severity
The study found a link between the severity of Lichen Planopilaris seen by doctors and the details seen under a microscope, and created a new way to measure this severity.
research Occipital Fibrosing Alopecia in a Young Male: A Case Report
A young man with an unusual type of scarring hair loss suggests a possible new variant of a known scalp condition.
research Visceral Leishmaniasis Mimicking Autoimmune Hepatitis
Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Protein-losing Enteropathy Exacerbated with the Appearance of Symptoms of Systemic Lupus Erythematosus.
Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.