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Australas J Dermatol 2021 Jun 7. Epub 2021 Jun 7.

Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.

A 56-year-old woman with hypohidrotic ectodermal dysplasia presented with a 10-year history of persisting wart-like skin lesions on her feet. Biopsy revealed changes of eccrine syringofibroadenoma. These lesions are rare, with only nine case reports describing an association with ectodermal dysplasia of hidrotic type (Clouston and Schopf's syndrome). Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jun;38(6):557-560

Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, Henan 450003, China.

Objective: To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation.

Methods: Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Read More

Ital J Pediatr 2021 Jun 2;47(1):128. Epub 2021 Jun 2.

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy.

Background: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. Read More

Ital J Pediatr 2021 Jun 2;47(1):126. Epub 2021 Jun 2.

Endocrine Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal recessive syndrome. The disorder is caused by mutations in the AIRE (AutoImmune Regulator) gene. According to the classic criteria, clinical diagnosis requires the presence of at least two of three main components: chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Read More

Quintessence Int 2021 Jun 2;0(0):2-12. Epub 2021 Jun 2.

Ectodermal dysplasia (ED) is one of the congenitally syndromic diseases with dental anomalies. This syndrome manifests in various forms and usually requires early restorative therapy to restore esthetics and function in young patients. The restorative approaches vary greatly and range from minimally invasive shape corrections using composite build-ups and removable partial or complete dental prostheses, to implantologic solutions, always based on the syndromic expression, the age of the patient, the residual growth, as well as the dentition itself. Read More

J Small Anim Pract 2021 Jun 2. Epub 2021 Jun 2.

Graduate Program in Animal Science, School of Life Sciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.

In the present report, we describe targeted next-generation sequencing of the EDA gene of a male poodle with a clinical and histopathological diagnosis of X-linked hypohidrotic ectodermal dysplasia. The result was compared with the reference sequence and with the result of the sequencing of a normal dog's EDA gene. No point variant, small deletion or insertion were found in the exons and splice sites, but a transition and a transversion were found in the intron 6' and 3' UTR, respectively. Read More

Genes (Basel) 2021 May 17;12(5). Epub 2021 May 17.

Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). EDSS1 is caused by biallelic mutations in the NECTIN4 gene, encoding the adherens junction component nectin-4. Nine EDSS1 cases have been described to date. Read More

Am J Med Genet A 2021 May 27. Epub 2021 May 27.

Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.

Biallelic loss-of-function variants in the thrombospondin-type laminin G domain and epilepsy-associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR disease association identified this gene is a cause of nonsyndromic hearing loss, but subsequent reports involving additional affected families have questioned this evidence and suggested a stronger association with ectodermal dysplasia. To clarify genotype-phenotype associations for TSPEAR variants, we characterized 13 individuals with biallelic TSPEAR variants. Read More

Oral Dis 2021 May 24. Epub 2021 May 24.

Department of Pediatric Dentistry, School of Dentistry & DRI, Seoul National University, Seoul, Korea.

J Clin Ultrasound 2021 May 15. Epub 2021 May 15.

Department of Gynecology, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Province, China.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare congenital genetic disorder caused by mutations in the ectodysplasin A gene, resulting in dysplasia or complete absence of teeth, hair, and sweat glands. XLHED is rarely diagnosed prenatally. We describe a case of XLHED diagnosed with prenatal sonography and umbilical cord blood gene testing. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):469-471

Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED).

Methods: Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents with informed consent and subjected to copy number variation (CNV) analysis and whole exome sequencing (WES). Read More

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Apr;46(4):432-437

Department of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China.

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. Read More

Orphanet J Rare Dis 2021 May 1;16(1):197. Epub 2021 May 1.

Division of Ophthalmology, The Children's Hospital of Philadelphia, 34Th and Civic Center Boulevard, Philadelphia, PA, 19104, USA.

Purpose: The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.

Methods: Retrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children's Hospital of Philadelphia over a 12-year period (2009-2020). Read More

West Afr J Med 2021 Apr;38(4):391-394

Department of Paediatrics and Child Health, Obafemi Awolowo University, Ile-Ife, Osun State, Nigeria.

Aplasia cutis congenita (ACC) is a rare developmental disorder that is not fully understood. It often occurs in isolation but can also be syndromic. Usually, there is an absence of the epidermis and dermis. Read More

Animals (Basel) 2021 Mar 2;11(3). Epub 2021 Mar 2.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a 6-year period demonstrated severe hypotrichosis and were diagnosed as affected with ECTD1-like syndrome. Two died of severe pneumonia within a week of birth. Read More

Nat Commun 2021 04 1;12(1):2028. Epub 2021 Apr 1.

Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Germline mutations in BRAF and other components of the MAPK pathway are associated with the congenital syndromes collectively known as RASopathies. Here, we report the association of Septo-Optic Dysplasia (SOD) including hypopituitarism and Cardio-Facio-Cutaneous (CFC) syndrome in patients harbouring mutations in BRAF. Phosphoproteomic analyses demonstrate that these genetic variants are gain-of-function mutations leading to activation of the MAPK pathway. Read More

Clin Case Rep 2021 Mar 9;9(3):1292-1294. Epub 2021 Jan 9.

Dental Department King Faisal Specialist Hospital & Research Center Riyadh Saudi Arabia.

Interesting case of an infant presented with multiple natal teeth, later he has a confirm diagnosis of ectodermal dysplasia. Read More

Cureus 2021 Feb 20;13(2):e13450. Epub 2021 Feb 20.

Family Medicine, Tower Health Medical Group, Reading, USA.

Ectodermal dysplasia (ED) is a rare heterogenous group of ectodermal disorder, which primarily affects skin, hair, nails, eccrine glands, and teeth. Hypohidrotic ED is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital decrease in the number of teeth /anodontia - complete absence of teeth). Primary care physicians and dentists play a crucial role in the early diagnosis and subsequent follow ups. Read More

No Shinkei Geka 2021 Mar;49(2):389-394

Department of Translational Research, Brain Research Institute, Niigata University.

Primary melanocytic neoplasms of the central nervous system(CNS)presumably arise from leptomeningeal melanocytes that are derived from the neural crest. Melanocytic neoplasms associated with neurocutaneous melanosis likely derive from melanocyte precursor cells that reach the CNS after somatic mutations, mostly, of the . They should be distinguished from other melanotic tumors involving the CNS, including metastatic melanoma and other primary tumors that undergo melanization, such as melanocytic schwannomas, medulloblastomas, paragangliomas, and various gliomas, because these lesions require different patient workups and therapy. Read More

BMJ Case Rep 2021 Mar 24;14(3). Epub 2021 Mar 24.

Medicine department, Baroda Medical College, Vadodara, Gujarat, India.

Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Mar;38(3):219-223

Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.

Objective: To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene.

Methods: The child has presented with HED complicated with epilepsy. Family trio whole exome sequencing (Trio-WES), copy number variation sequencing (CNV-seq), and karyotype analysis were carried out to explore the underlying genetic etiology. Read More

Dermatol Clin 2021 Apr 10;39(2):231-243. Epub 2021 Feb 10.

Duke University School of Medicine, 5324 McFarland Drive, Suite 410, Durham, NC 27707, USA. Electronic address:

Many pediatric nail findings are normal variants and are no cause for alarm. Others represent congenital abnormalities or genetic syndromes for which there is no cure. Still others are inflammatory or infectious entities that require treatment. Read More

Clin Genet 2021 Jul 29;100(1):84-89. Epub 2021 Mar 29.

Aix Marseille Univ, INSERM, MMG, Marseille, France.

STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi-allelic mutations in STIM1 gene are responsible for a loss-of-function in patients affected with a CRAC channelopathy syndrome in which severe combined immunodeficiency syndrome (SCID-like), autoimmunity, ectodermal dysplasia and muscle hypotonia are combined. Here, we studied two siblings from a consanguineous Syrian family, presenting with muscle weakness, hyperlaxity, elastic skin, tooth abnormalities, dysmorphic facies, hypoplastic patellae and history of respiratory infections. Read More

Nat Genet 2021 04 17;53(4):467-476. Epub 2021 Mar 17.

Department of Biology, Stanford University, Stanford, CA, USA.

Gene regulatory divergence is thought to play a central role in determining human-specific traits. However, our ability to link divergent regulation to divergent phenotypes is limited. Here, we utilized human-chimpanzee hybrid induced pluripotent stem cells to study gene expression separating these species. Read More

Exp Ther Med 2021 Apr 1;21(4):311. Epub 2021 Feb 1.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.

Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal-recessive disease that is characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded by six CED-associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in the assembly, maintenance and function of primary cilia. The current study identified compound novel heterozygous (NM_052985. Read More

Am J Med Genet A 2021 Jun 13;185(6):1691-1699. Epub 2021 Mar 13.

Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reported to date are fatal either in the prenatal or neonatal period. Causative genetic defects of BPS were mapped on the RIPK4 gene encoding receptor-interacting serine/threonine kinase 4, which is critical for epidermal differentiation and development. Read More

J Prosthet Dent 2021 Mar 2. Epub 2021 Mar 2.

Professor of Prosthodontics, Member of Evidence Based Dentistry Center and Head of Fundraising Unit and Central Control Unit, Faculty of Dentistry, Cairo University, Cairo, Egypt. Electronic address:

Statement Of Problem: Patients with ectodermal dysplasia are characterized by anodontia or oligodontia. How their challenging prosthodontic rehabilitation might be optimized is unclear.

Purpose: The purpose of this crossover study was to evaluate the effect of resilient denture liner versus acrylic resin copings in complete overdentures for patients with ectodermal dysplasia. Read More

Int J Environ Res Public Health 2021 02 19;18(4). Epub 2021 Feb 19.

Department of Biochemistry, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan 00936, Puerto Rico.

: Setleis syndrome (SS) is a focal facial dermal dysplasia presenting with bilateral temporal skin lesions, eyelash abnormalities and absent meibomian glands. SS is a rare autosomal recessive disorder caused by mutations in the TWIST2 gene, which codes for a transcription factor of the bHLH family known to be involved in skin and facial development. : We obtained gene expression profiles by microarray analyses from control and SS patient primary skin fibroblast and lymphoblastoid cell lines. Read More