research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
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240-270 / 1000+ resultsresearch A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research LOS ANGELES DERMATOLOGICAL SOCIETY
The girl has an inflammatory type of scarring hair loss.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
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 Bilateral Nevus Comedonicus of the Eyelids
A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
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.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
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 Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa
People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
research Episodic Bilateral Corneal Edema Caused by Hair Groom Gel
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Commentary on Repair of Apical Triangle Defects Using Melolabial Rotation Flaps
research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Loose anagen hair syndrome in children of Upper Egypt
Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.