research At the Root: Cutaneous Langerhans Cell Histiocytosis
A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
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480-510 / 1000+ results research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
research A rare case of woolly hair with unusual associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research BH26 First reported case of lichen planopilaris in siblings: evidence for a genetic link?
Lichen planopilaris may have a genetic link.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research A 61-year-old Filipino man with lichen planus concomitant with cicatricial alopecia, mimicking discoid lupus erythematosus
A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research The Rapunzel syndrome: is it an Asian problem? (case report and review of literature)
Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: A new entity?
A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
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 Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Lugol's solution-induced painless thyroiditis
Lugol's solution can cause thyroid problems if used long-term for non-approved reasons.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
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 1397 LSD1 is critical for epidermal development and skin barrier formation
LSD1 is essential for healthy skin development and creating the skin's protective barrier.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
research 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
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 Is lichen planus a marker for dyslipidemia and metabolic syndrome?
Lichen planus may be associated with a higher risk of metabolic syndrome.
research Lichen planopilaris
Lichen planopilaris is a rare, chronic condition causing hair loss, mainly in middle-aged women, and early treatment is important to prevent permanent baldness.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.