research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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research A STUDY ON CUTANEOUS MANIFESTATIONS OF HYPOTHYROIDISM IN A TERTIARY HOSPITAL IN SOUTH INDIA
Most hypothyroid patients experience dry skin and swelling.
research C3-C4 shingles post haematopoietic stem-cell transplantation
A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research 1,25-dihydroxyvitamin D resistance, rickets, and alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
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 The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Pemphigus Foliaceus in a 26-year-old Hackney Pony
The pony's skin condition improved significantly with prednisolone treatment.
research Female Adolescent Hair Disorders
Quick treatment of hair disorders in teenage girls is important because of the emotional effects.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4-lsomerase in Human Adrenals and Gonads
Human adrenals and gonads have a unique enzyme for steroid hormone production.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Divergent roles of HDAC1 and HDAC2 in the regulation of epidermal development and tumorigenesis
HDAC1 is crucial for skin development and preventing tumors.
research Interactions between epidermal growth factor and the Tabby mutation in skin
Normal skin results from interactions between EGF and the Tabby mutation.
research Disorders of hair in children
The document concludes that accurate diagnosis and understanding the type of hair disorder are crucial for treating hair loss in children.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research The articulations of Adam's rib with the lower urinary tract
The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Hypo- versus hyper-thyroidism in 2 cats: the culprit for miliary dermatitis/hypersensitivity versus growth retardation
One cat with low thyroid hormone had growth issues, and another with high thyroid hormone had skin problems; both got better with treatment.
research DIFFERENT HORMONAL PATTERNS IN PREP'UBERTAL HYPERTRICHOSIS
research Atrichia with papular lesions mimicking alopecia areata universalis
The man's hair loss and skin papules were diagnosed as atrichia with papular lesions, not alopecia areata universalis.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research Follicular dysplasia in two cows
Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
research Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects
The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.