research Can washing socks without flipping inside out cause hair tourniquet syndrome? A claim with two case reports
Washing baby socks without flipping them inside out may increase the risk of Hair Tourniquet Syndrome.
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research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Familial association of polycystic ovary syndrome (PCOS) in women attending the gynaecological endocrinology clinic at Groote Schuur Hospital
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Toe Tourniquet Syndrome in Association With Maternal Hair Loss
Baby's toe injury linked to mom's hair loss; check baby's toes and be careful with fruit gel snacks.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research Polycystic ovary syndrome is associated with anogenital distance, a marker of prenatal androgen exposure
Women with polycystic ovary syndrome tend to have a longer anogenital distance.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Localized trichorrhexis nodosa
Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research 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 Coexistence of acquired localized hypertrichosis and lipoatrophy after lupus panniculitis
Localized hair growth and fat loss may share a common cause in lupus panniculitis.
research Hair thread tourniquet syndrome in a male infant: a rare surgical emergency
A baby boy's toe was saved from damage caused by hair strangulation by quick surgical treatment.
research Cutaneous Keratocyst and Steatocystoma Unified as Sebaceous Duct Cyst, a Hamartoma Resembling the Sebaceous Duct
Cutaneous keratocyst and steatocystoma should be called "sebaceous duct cyst" due to their similarities.
research Concerted gene duplications in the two keratin gene families
research Cyclical dermal micro-niche switching governs the morphological infradian rhythm of mouse zigzag hair
Mouse zigzag hair bends form due to a 3-day cycle of changes in hair progenitors and their environment.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Papular Acantholytic Dyskeratosis of the Vulva: A Case Report and Literature Review
Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.