research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
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research Multiomics Analysis of the Response to Ritlecitinib in Alopecia Areata Subtypes and Correlation With Efficacy
Ritlecitinib helps reduce inflammation and promote hair regrowth in alopecia areata, especially in patchy-type cases.
research Patterns of clinical response in patients with alopecia areata treated with ritlecitinib in the ALLEGRO clinical development programme
Ritlecitinib shows promise for treating alopecia areata, especially with early and extended treatment.
research 046 Analysing the mechanistic basis of Ritlecitinib’s therapeutic effects in Alopecia Areata
Ritlecitinib effectively treats severe Alopecia Areata by reducing harmful immune activity in the skin.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma
Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
research Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Uncommon Presentation of Pityriasis Rubra Pilaris of the Scalp: Clinical, Trichoscopic, and Histopathologic Features and Review of the Literature
Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.
research Giant pigmented tumour of the scalp—a diffuse neurofibroma or a congenital naevus showing neurofibromatous changes? Immunohistochemical and electron microscopic studies
The tumor likely shows dual neural crest differentiation.
research Efficacy and safety of the oral Janus kinase 3/tyrosine kinase expressed in hepatocellular carcinoma family kinase inhibitor ritlecitinib over 24 months: integrated analysis of the ALLEGRO phase IIb/III and long-term phase III clinical studies in alopecia areata
Ritlecitinib effectively treats alopecia areata and is safe for long-term use in people 12 and older.
research Use of Rituximab for Dermatomyositis Over Conventional Therapy: A Case Report
Rituximab improved her dermatomyositis better than usual treatments.
research Primary cutaneous follicle centre cell lymphoma of the scalp presenting with scarring alopecia
A woman with scalp lymphoma and hair loss improved with radiotherapy, highlighting the need for biopsies in similar cases.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Fast clinical response with topical ruxolitinib in the management of non-segmental vitiligo detected by VISIA® analysis system
Topical ruxolitinib quickly improves non-segmental vitiligo.
research Central centrifugal cicatricial alopecia: retrospective case-control study of 54 patients from a tertiary care center
CCCA mainly affects Black women and is linked to high-tension hairstyles, heating tools, chemical relaxants, and genetics.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Central centrifugal cicatricial alopecia
CCCA is a scarring hair loss condition mainly in African descent women, possibly caused by genetics and hairstyling, treated with gentle hair care and medications.
research 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
research Predominance of CD27-PD-1- Effector Memory T Cells Re-Expressing CD45RA Characterizes Treatment-Resistant Severe Alopecia Areata
CD8+ T cells re-expressing CD45RA may predict treatment resistance in severe alopecia areata.
research Association of breast and colorectal cancer in patients with central centrifugal cicatricial alopecia: A retrospective, cross-sectional pilot study
Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Tamoxifen-associated hirsutism: an unusual side effect in a 5-year-old girl with McCune-Albright syndrome
A 5-year-old girl with McCune-Albright syndrome grew abnormal hair due to the drug tamoxifen.
research High-throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in alopecia areata
CD8+ T cells are involved in alopecia areata and may cause disease relapse.
research Central centrifugal cicatricial alopecia
CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.