research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
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540-570 / 1000+ results research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research BH03: Systemic sclerosis and frontal fibrosing alopecia: a novel combination of scarring alopecia
A woman with systemic sclerosis developed a unique scarring hair loss combining features of systemic sclerosis and frontal fibrosing alopecia.
research Subacute cutaneous lupus erythematosus presenting as erythroderma
A woman with subacute cutaneous lupus erythematosus had widespread skin symptoms triggered by medication and sunlight, which improved with specific treatments.
research Misdiagnosed dermatophytosis
Misdiagnosed skin infections led to ineffective treatments and serious complications.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research Onychomadesis associated with childhood hand-foot-mouth disease
Hand-foot-mouth disease may cause nail loss in children.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Atypical necrobiosis lipoidica of the face
A 36-year-old man had unusual skin lesions on his face without hair loss.
research Myeloproliferative disorder associated with alopecia universalis
Ruxolitinib helped regrow hair in a woman with a blood disorder and complete hair loss.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research 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 Erosive pustular dermatosis of the scalp and multiple sclerosis: just a coincidence?
EPDS and MS might share an immune-related cause.
research Dermatoscopic findings of syphilitic alopecia
Dermoscopy helps diagnose syphilitic alopecia, and treatment with penicillin can regrow hair.
research Clinical Manifestations of Dermatomyositis
Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research P44 The presentation of systemic erythematous lupus with Kikuchi-Fujimoto disease
A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Intermittent chronic telogen effluvium with an unusual dermoscopic finding
A 17-year-old girl has had repeated hair loss since childhood, which can be triggered by infections like COVID-19.
research Altered Dermal Fibroblasts in Systemic Sclerosis Display Podoplanin and CD90
Fibroblast changes in systemic sclerosis may help understand disease severity and treatment.
research Hair Shaft Abnormalities as a Dermoscopic Feature of Mycosis Fungoides: Pilot Results
Hair shaft abnormalities can help distinguish mycosis fungoides from other skin conditions.
research Manifestasi Klinis COVID-19 Pada Kulit
COVID-19 can cause various skin issues, helping doctors diagnose it early.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
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 SUMMARIES OF PAPERS
The document concludes that secondary syphilis cases are increasing and often misdiagnosed, pityriasis rubra pilaris can be distinguished from psoriasis by skin cell features, and different skin layers produce specific components during skin repair.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.