research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
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540-570 / 1000+ results 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 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Carbon finance opportunities: There are excellent funding opportunities available to hydro developers in the new Carbon market
Nevus comedonicus can appear later in life and affect both eyelids.
research Salivary Gland Choristoma (Heterotopic Salivary Gland Tissue) on the Anterior Chest Wall of a Newborn
A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant
The neck mass was a rare benign "wattle," surgically removed for diagnosis and appearance.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Ectopic Sebaceous Glands in the Hair Follicle Matrix: Case Reports and Literature Review of this Embryogenic Anomaly
The cause and importance of misplaced oil glands in the hair follicle are not well understood.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research 1418 Characterization of ectomesenchyme as an origin of epidermal stem cells
Ectomesenchyme is a key source of skin stem cells.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Parallels in signaling between development and regeneration in ectodermal organs
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Existence of Neural Crest–Derived Progenitor Cells in Normal and Fuchs Endothelial Dystrophy Corneal Endothelium
Neural crest-derived progenitor cells in the cornea could help treat corneal issues without transplants.
research Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
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 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research NG2 Proteoglycan Expression in Mouse Skin: Altered Postnatal Skin Development in the NG2 Null Mouse
NG2 is crucial for normal skin and hair development in mice.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Alopecia neoplastica caused by desmoplastic melanoma
A rare skin cancer caused hair loss and spread, needing multiple treatments.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey
Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.