research Congenital Lipedematous Alopecia in a 6-Year-Old Asian Boy
A 6-year-old Asian boy has a rare scalp condition causing hair loss and thickening, with unclear causes and no effective treatment.
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120-150 / 1000+ resultsresearch Çocukta obezite ile birlikte lipoödematöz skalp
An 11-year-old obese girl was diagnosed with lipedematous scalp, a condition with swollen scalp tissue usually found in adult women.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research Distinguishing Lipedematous Scalp, Lipedematous Alopecia, and Diffuse Alopecia Areata
The conclusion is that it's important to tell apart alopecia areata from lipedematous alopecia for proper treatment, as alopecia areata can be reversed.
research Three-dimensional models: from cell culture to Patient-Derived Organoid and its application to future liposarcoma research
3D models and organoids improve liposarcoma research and therapy development.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research 923 Molecular phenotyping of lichen planopilaris revealed dysregulation of cholesterol/fatty acid metabolism, fibrosis and mast cell pathways
Lichen planopilaris involves disrupted fat metabolism, increased scarring, and mast cell activity.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Delta‐6 desaturase knockout mouse illustrates previously undocumented pathology
Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research A Review of Metabolic Dysregulation in Lymphocytic Cicatricial Alopecia: Exploring the Connections and Therapeutic Implications
Metabolic issues may trigger lymphocytic cicatricial alopecia, and treatments targeting these issues could help.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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 syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Adipocytic Progenitor Cells Give Rise to Pathogenic Myofibroblasts: Adipocyte-to-Mesenchymal Transition and Its Emerging Role in Fibrosis in Multiple Organs
Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
research Displasia folicular en un Doberman adulto de capa negra : un caso clínico
A black Doberman with hair loss improved partially with omega-3/omega-6 treatment.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Mast-cell driven dermal white adipose tissue remodeling amplifies inflammation and fibrosis in atopic dermatitis
Adipocytes in atopic dermatitis skin change and worsen inflammation and fibrosis.
research Follicular dysplasia in two cows
Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Case number 19th of perforating necrobiosislipoidica worldwide
The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.