research Frontal fibrosing alopecia: A review of disease pathogenesis
The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
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research Fibrothecoma of Ovary with Virilizing Features
A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
research A rash diagnosis
The man's rash, hair loss, and vision issues were due to syphilis, not CMV.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research A 32‐year‐old woman with arthralgias and severe hypotension
Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
research 神経性無食欲症における自己誘発性嘔吐後に発生した慢性結節性痛風
Self-induced vomiting in anorexia can lead to rare gout complications.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research A Case of Vitiligo Combined with Systemic Lupus Erythematosus Treated with Tofacitinib
Tofacitinib successfully treated vitiligo in a patient with lupus without side effects.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research 177 Chronic graft-versus-host disease exhibits distinct Th1-skewing and barrier abnormalities in the skin
Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
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 An unusual anatomical colocalization of alopecia areata and vitiligo in a child, and improvement during treatment with topical prostaglandin E2
Topical prostaglandin E2 can help treat both alopecia areata and vitiligo.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Keratosis Follicularis Spinulosa Decalvans Associated with Acne Keloidalis Nuchae and Tufted Hair Folliculitis
KFSD can be linked to acne keloidalis nuchae and tufted hair folliculitis.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research [Androgenic alopecia revealing an androgen secreting ovarian tumor].
An 80-year-old woman's severe hair loss was caused by a hormone-secreting ovarian tumor.
research Is there a pathogenetic link between frontal fibrosing alopecia, androgenetic alopecia and fibrosing alopecia in a pattern distribution?
Frontal fibrosing alopecia and androgenetic alopecia may be related, with a possible shared cause.
research High throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in Alopecia Areata
Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Concurrent hepatitis B and autoimmune hepatitis a rare presentation of acute liver failure: a case report
A young woman recovered well from rare simultaneous Hepatitis B and autoimmune hepatitis after treatment.
research A Neglected case of Systemic lupus erythematosus presenting by Degos’ skin disease and diffuse non-scarring alopecia with dramatic response to treatment, clinically and dermoscopy.
The patient with lupus and Degos' disease showed significant improvement with treatment.
research CD8-positive Lymphocytes in Graft-Versus-Host Disease of Humanized NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ Mice
CD8+ T cells play a key role in graft-versus-host disease in certain mice models.