research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
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research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Angioedema After Squaric Acid Treatment in a 6‐Year‐Old Girl
A 6-year-old girl had a rare allergic reaction to a hair regrowth treatment.
research Dysfunction of keratinocyte adhesion
Keratinocyte adhesion problems can cause skin and hair disorders.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Wnt target gene Ascl4 is dispensable for skin appendage development
The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Successful treatment with upadacitinib in concurrent atopic dermatitis, Crohn’s disease, alopecia areata, and eosinophilic gastropathy in a pediatric patient
Upadacitinib improved symptoms and hair regrowth in a teen with multiple autoimmune conditions.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Rapidly growing hand nodule
A 69-year-old woman has a fast-growing hand lesion that didn't improve with salicylic acid.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Androgenetic Alopecia
research A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
research BASP-Classification of Androgenetic Alopecia: Application Experience in Men
The M-type is the most common form of male hair loss, and the BASP-classification is easy for different medical professionals to use.
research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Alopecia Areata – Effects of Treatment with Upadacitinib – Two Case Reports
Upadacitinib can effectively regrow hair in alopecia areata patients without worsening sarcoidosis.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.