research (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
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690-720 / 1000+ resultsresearch Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research P050 Rapidly worsening subcutaneous oedema in a young boy: a case of juvenile dermatomyositis
Juvenile dermatomyositis can worsen quickly and needs strong treatment.
research Alopecia areata incognita: a comment
The author clarified that Alopecia Areata Incognita (AAI) and diffuse Alopecia Areata (AA) are different conditions and the case discussed was actually AA, not AAI.
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 Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research A new species ofAplodontopus(Acari: Astigmata: Chortoglyphidae) from the yellow-bellied marmot,Marmota flaviventris(Rodentia: Sciuridae) in Eastern Washington, USA, with observations on its pathology
Researchers found a new mite species causing severe hair loss and skin problems in yellow-bellied marmots.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Wnt target gene Ascl4 is dispensable for skin appendage development
The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
research Atopic Dermatitis and Multilocular Alopecia Areata Simultaneously Treated With Baricitinib
Baricitinib effectively improved both atopic dermatitis and alopecia areata symptoms in a patient.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Defining BMP functions in the hair follicle by conditional ablation of BMP receptor IA
BMP receptor IA is essential for proper hair cell differentiation in mice.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Rare and misdiagnosed entity fibrosing alopecia in a pattern distribution: A case report
A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.
research Dysfunction of keratinocyte adhesion
Keratinocyte adhesion problems can cause skin and hair disorders.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research Granuloma annulare with alopecia areata in a 6-year-old girl: a case report
A young girl with skin and scalp conditions showed some improvement with treatment.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Reviewer #1 (Public review): Mesenchymal Meis2 controls whisker development independently from trigeminal sensory innervation
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.