research Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
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research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Alopecia as the Presenting Symptom of Syphilis
Hair loss can be a symptom of syphilis.
research The Case Files
Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.
research Overlapping of DRESS and Stevens-Johnson syndrome due to first-line antituberculosis drugs: a case report
Antituberculosis drugs can cause severe skin reactions, requiring careful diagnosis and treatment.
research Hand-Foot and Stump Syndrome to Sorafenib
Sorafenib may cause hand-foot and stump syndrome, requiring early detection and management.
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
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 A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Acitretin-Altered Squamous Cell Carcinoma
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
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 A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Alopecia Areata in a Patient Undergoing Treatment for Secondary Syphilis: A Diagnostic Challenge
Trichoscopy helps correctly diagnose alopecia areata, not syphilitic alopecia, in patients with recent syphilis.
research A boggy swelling of the scalp
A rare calcium deposit condition was found on a man's scalp.
research Madarosis and facial keratinaceous spines
Reducing immunosuppression and using antiviral creams improved the woman's skin condition.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Hair toe tourniquets: a review of two case studies
Educating healthcare workers and parents about hair toe tourniquets can help prevent serious complications.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Supplementary Material for: TOFACITINIB IN OVERLAPPING AUTOIMMUNE AND AUTOINFLAMMATORY DISORDERS: A CASE REPORT OF A DUAL GRAHAM-LITTLE-PICCARDI-LASSEUR SYNDROME AND HIDRADENITIS SUPPURATIVA
Tofacitinib significantly improved symptoms in a patient with overlapping autoimmune disorders.
research Primary TSC2-/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model
TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
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 Adult black dot tinea capitis caused by Trichophyton tonsurans complicated with herpes zoster
A woman with a scalp infection and herpes recovered fully after treatment.