research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
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690-720 / 1000+ resultsresearch Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Mucinous Lupus Alopecia with Papulonodular Mucinosis as a Sole Cutaneous Manifestation of Systemic Lupus Erythematosus
A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Aberrant connective tissue sheath contraction drives premature hair follicle regression by inducing progenitor cell depletion in androgenetic alopecia
Abnormal contraction of connective tissue in hair follicles causes hair loss by killing off important cells, and treating this could improve hair growth.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Vogt-Koyanagi-Harada Disease Diagnosed in a Black-Skinned Woman in Internal Medicine
A black-skinned woman was diagnosed with Vogt-Koyanagi-Harada disease and treated with steroids and eye drops.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research A rare primary subcutaneous panniculitis-like T-cell lymphoma with scalp involvement associated with lupus panniculitis
Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Clinical case of delayed diagnosis of celiac enteropathy
The patient was diagnosed with celiac disease after a long delay, showing the need for better awareness and earlier detection.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research End Stage Nonspecific Group
Cicatricial alopecia can progress to complete hair loss, making diagnosis and management difficult.
research Acantholytic hair casts: A dermoscopic sign of pemphigus vulgaris of the scalp
Hair casts on the scalp may be a sign of ongoing pemphigus vulgaris and could suggest a need to adjust treatment.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research A Case of Cronkhite-Canada Syndrome with Telogen Effluvium and Onycholysis
Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.