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210-240 / 1000+ resultsresearch 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 Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Ossifying pilomatrixoma with marrow formation of the left cheek region – Case report with review of literature
A rare benign cheek tumor was successfully removed from a 15-year-old girl without complications or recurrence.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Alopecia in vitamin D-dependent rickets type II responding to 1α-hydroxycholecalciferol
A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research ORAL CHRONIC ULCER: A DIAGNOSIS CHALLENGE
Diagnosing oral ulcers can be complex and requires careful examination and follow-up.
research A WWP2–PTEN–KLF5 signaling axis regulates odontoblast differentiation and dentinogenesis in mice
WWP2 is crucial for tooth development in mice.
research Pili Trianguli et Canaliculi Is a Defect of Inner Root Sheath Keratinization
The hair defect is due to abnormal inner root sheath keratinization.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research PILOMATRICOMA: A CASE REPORT AND INTRAORAL SURGICAL APPROACH
The report shows that a rare benign tumor was successfully removed from inside the mouth to avoid scarring on the face.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research A Case of Secondary Osteoma Cutis Associated with Lichen Planopilaris
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Postoperative Alopecia Following Orthognathic Surgery
A woman experienced temporary hair loss after jaw surgery, which can be reduced by careful head positioning during the operation.
research RETORNOS PERIÓDICOS EM PORTADORES DE PRÓTESES PARCIAIS FIXAS EM DENTES NATURAIS E IMPLANTES ÓSSEO INTEGRADOS
research Abstracts of the 11th International Conference on Children's Bone Health
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Morbidity of anterior iliac crest and calvarial bone donor graft sites: a 1-year randomized controlled trial
Both bone donor sites had low long-term issues and high patient satisfaction.
research Onychogryphosis by an elastic wire
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.