research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
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research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research A phase 2a trial of brepocitinib for cicatricial alopecia
Brepocitinib effectively reduces inflammation and improves symptoms in cicatricial alopecia with good safety.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Psychosis as a late manifestation of Sheehan’s syndrome
Sheehan's syndrome can sometimes cause psychosis.
research Maintenance, withdrawal, and re-treatment with ritlecitinib and brepocitinib in patients with alopecia areata in a single-blind extension of a phase 2a randomized clinical trial
Continuous treatment with ritlecitinib and brepocitinib is needed to maintain hair regrowth in alopecia areata.
research Balint’s syndrome—missed or mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research NEW ENGLAND DERMATOLOGICAL SOCIETY
The woman's widespread skin condition did not improve despite various treatments.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Secondary amenorrhoea with absent axillary hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
research Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report
Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.