research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
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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 Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Framing the Problem: The Mystery of Post-Finasteride Syndrome and Reasons to Suspect a Microbial Factor
Gut bacteria imbalance may cause Post-Finasteride Syndrome symptoms.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Co-Occurrence of Pityriasis Amiantacea and Cutis Verticis Gyrata Secondary to Leukaemia Cutis of the Scalp
A rare scalp condition can occur due to leukemia affecting the skin.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research PC038: A rare case of strawberry gingivitis associated with Granulomatosis with polyangiitis - GPA (Wegener granulomatosis)
A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
research Fibrosing Alopecia in a Pattern Distribution (FAPD) in 16 African-Descent and Hispanic Female Patients: A Challenging Diagnosis
FAPD is a possible diagnosis for hair loss in patients of color and requires multiple evaluations for accurate diagnosis.
research Pityrosporum folliculitis in immunocompromised populations: A systematic review
Treating underlying conditions and using antifungals effectively resolve Pityrosporum folliculitis in immunocompromised people.
research Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research Morphological analyses in fragility of pili torti with Björnstad syndrome
Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research Recurrence of Pemphigus Vulgaris Associated With Interleukin 2 Therapy
A man's skin condition, pemphigus vulgaris, came back after he was treated with interleukin 2 for cancer.
research Central precocious puberty secondary to peripheral precocious puberty due to a pineal germ cell tumor: a case and review of literature
A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
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 865 Frontal fibrosing alopecia is associated with dysregulation of cholesterol biosynthesis pathways, fibrosis and mast cells
Frontal Fibrosing Alopecia involves disrupted cholesterol pathways, fibrosis, and increased mast cells.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research The Significance of Scalp Involvement in Pemphigus: A Literature Review
Scalp involvement is common in pemphigus and can lead to hair loss, with the severity of scalp lesions linked to overall disease severity.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research Follicular mycosis fungoides mimicking a cutaneous B‐cell lymphoproliferative disorder
Follicular mycosis fungoides can look like a B-cell lymphoma, making diagnosis difficult.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.