research An unusual variant of granulomatous adnexotropic cutaneous T-cell lymphoma
A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
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510-540 / 1000+ resultsresearch LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Coexistence of angiolymphoid hyperplasia with eosinophilia and pulmonary neoplasia
A man with both skin lesions and lung cancer improved quickly with chemotherapy, suggesting the skin condition might be a reaction to immune system injury.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research 心音図の読み方の基礎 (心電図・心音図の価値と限界(特集))
Lichen spinulosus, usually seen in young people, can rarely occur in adults, as shown by a 52-year-old woman with a rough, bumpy rash.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Embolic Stroke as the Initial Manifestation of Systemic Lupus Erythematosus
Early recognition and management of connective tissue diseases like lupus are crucial in young patients.
research Discoid Lupus Erythematosus
Discoid Lupus Erythematosus often causes scarring hair loss, is influenced by genetics and environment, and requires early treatment to prevent worsening.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research Comprehensive Evaluation of Neuropsychiatric and Mucocutaneous Manifestations in the Diagnosis of Systemic Lupus Erythematosus: A Complete Clinical Approach to a Case
Recognizing unusual brain and skin symptoms is crucial for diagnosing lupus early.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Erosive Lichen Sclerosus—A Clinicopathologic Subtype
Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Retrospective review of diphencyprone in the treatment of alopecia areata
Diphencyprone helped most patients with alopecia areata regrow some hair.
research Systemic lupus erythematosus presenting with bullous lesions, cutaneous vasculitis and laryngeal ulcerations-a rare association
A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research The spectrum of cutaneous manifestations in lupus erythematosus—the Italian experience
In Italian patients with lupus, the most common skin issue was chronic cutaneous lupus, especially discoid lesions, and nonspecific skin problems occurred in about a third of those with systemic lupus, mainly during active disease.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research A Case Report of a Rare Subacute Cutaneous Lupus Erythematosus with Chin Prostration
A rare lupus case on the chin was successfully treated with steroids and immunomodulators after accurate diagnosis using advanced imaging techniques.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Treatment of erythromelanosis follicularis faciei et colli with a 595‐nm pulsed dye laser
The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.
research An atypical clinical presentation of alopecia in 2 patients with systemic lupus erythematosus
Two patients with lupus had an unusual type of hair loss not typical for the disease but improved with treatment.
research Lichen planus pigmentosus and lichen planopilaris
Some people with lichen planus pigmentosus might later develop frontal fibrosing alopecia.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.