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Nutrients 2022 Jun 8;14(12). Epub 2022 Jun 8.

Institute for Experimental Endocrinology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.

Neurodevelopmental diseases are often associated with other comorbidities, especially inflammatory processes. The disease may affect the trace element (TE) status, which in turn may affect disease severity and progression. Selenium (Se) is an essential TE required for the biosynthesis of selenoproteins including the transporter selenoprotein P (SELENOP) and extracellular glutathione peroxidase (GPX3). Read More

Genes (Basel) 2022 Jun 13;13(6). Epub 2022 Jun 13.

Clinical Genetics Department, Human Genetics & Genome Research Division (HGGR), National Research Centre (NRC), Cairo 12622, Egypt.

Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapping features, variable expressivity, and low number of patients, hindering full phenotypic spectrum identification. Disease-causing variants in elements of major developmental pathways, e. Read More

Wien Med Wochenschr 2022 Jun 20. Epub 2022 Jun 20.

Department of Dermatology and Venereology, Medical Faculty, Medical University, 15A V. Aprilov Blvd., 4002, Plovdiv, Bulgaria.

Eur J Paediatr Dent 2022 Jun;23(2):140-146

Institute of Dentistry and Oral Sciences, Palacky University, Faculty of Medicine and Dentistry and Faculty Hospital in Olomouc, Olomouc, Czech Republic.

Aim: Despite the fact that ectodermal dysplasia (ED) is a rare disease, it is often seen in a tertiary clinic. ED affects ectodermal tissues such as skin, hair, teeth, nails, and sweat glands. Patients usually have sparse light hair, deformed nails, and dry skin. Read More

J Cell Mol Med 2022 Jun 15. Epub 2022 Jun 15.

Department of Molecular Medicine, University of Padua, Padua, Italy.

Human epithelial stem cells (ESCs) are characterized by long-term regenerative properties, much dependent on the tissue of origin and varying during their lifespan. We analysed such variables in cultures of ESCs isolated from the skin, conjunctiva, limbus and oral mucosa of healthy donors and patients affected by ectrodactyly-ectodermal dysplasia-clefting syndrome, a rare genetic disorder caused by mutations in the p63 gene. We cultured cells until exhaustion in the presence or in the absence of DAPT (γ-secretase inhibitor; N-[N-(3, 5-difluorophenacetyl)-L-alanyl]-S-phenylglycine T-butyl ester). Read More

J Clin Immunol 2022 Jun 9. Epub 2022 Jun 9.

Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata, 951-8510, Japan.

Sultan Qaboos Univ Med J 2022 May 26;22(2):288-290. Epub 2022 May 26.

Department of Orthopaedics, Lady Hardinge Medical College, New Delhi, India.

Cleft foot is a congenital anomaly characterised by absence of the metatarsal bones and phalanges. It is commonly seen in children with ectrodactyly-ectodermal dysplasia-clefting syndrome ranging from a median cleft up to the mid metatarsals to a deep cleft up to the tarsal bones. Surgical treatment in the form of cleft closure, excision of the rudimentary metatarsal bone and cross K-wire fixation of metatarsal bones have been tried for the management of such cases. Read More

Indian J Dermatol 2022 Jan-Feb;67(1):54-57

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Introduction: Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting with a clinical phenotype of dysplasia of one or more ectodermal structures who underwent next-generation sequencing for mutational analysis.

Case Series: The clinical phenotype of three patients was hypohidrotic ectodermal dysplasia (HED) and one patient was diagnosed with autoimmune polyglandular syndrome (APS) type 1. Read More

Clin Oral Investig 2022 May 31. Epub 2022 May 31.

Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, 1838 Guangzhou North Avenue, Guangzhou, 510515, China.

Objectives: KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Read More

Stud Health Technol Inform 2022 May;294:844-848

Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, Paris, France.

The wide adoption of Electronic Health Records (EHR) in hospitals provides unique opportunities for high throughput phenotyping of patients. The phenotype extraction from narrative reports can be performed by using either dictionary-based or data-driven methods. We developed a hybrid pipeline using deep learning to enrich the UMLS Metathesaurus for automatic detection of phenotypes from EHRs. Read More

J Eur Acad Dermatol Venereol 2022 May 25. Epub 2022 May 25.

Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

Background: In X-linked hypohidrotic ectodermal dysplasia (XLHED), ectodysplasin A1 (EDA1) deficiency results in malformation of hair, teeth and sweat glands. Lack of sweating which can cause life-threatening hyperthermia is amenable to intrauterine therapy with recombinant EDA1.

Objectives: This study aimed at evaluating reproductive decision-making by women with XLHED and at clarifying the potential impact of a prenatal treatment option. Read More

Ophthalmic Genet 2022 May 23:1-3. Epub 2022 May 23.

Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, Connecticut, USA.

Purpose: Alacrima is characterized by severely decreased or deficient tear production. It can be associated with systemic findings; most commonly Triple-A Syndrome with alacrima, achalasia, and adrenal dysfunction.

Methods: A case report and review of the literature. Read More

Cureus 2022 Apr 20;14(4):e24300. Epub 2022 Apr 20.

Internal Medicine, Nishtar Medical University, Multan, PAK.

Ectodermal dysplasias (EDs) encompass a large group of inherited disorders that affects two or more ectodermally derived structures. Hair, sweat glands, teeth, and nails are the most common ectodermal derivates affected. Other ectodermal structures that may be affected are ears, eyes, lips, and mucous membranes of the mouth or nose. Read More

Clin Case Rep 2022 May 18;10(5):e05888. Epub 2022 May 18.

Faculty of Medicine Damascus University Damascus Syria.

Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7-year-old girl with Ellis-van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect. Read More

Hum Genome Var 2022 May 20;9(1):17. Epub 2022 May 20.

Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.

Ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense variant (NM_001114980.2:c. Read More

Dis Markers 2022 10;2022:7840710. Epub 2022 May 10.

Department of Dermatology, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.

Background: Basan syndrome is a rare autosomal-dominant ectodermal dysplasia with certain clinic-pathological features caused by mutations in the SMARCAD1 gene. Currently, no skin malignancy related to Basan syndrome has been reported. This study was aimed at identifying related gene mutations in a new Chinese pedigree with Basan syndrome and discovering the possible association between Basan syndrome and cutaneous squamous cell carcinoma (cSCC). Read More

Genet Med 2022 May 17. Epub 2022 May 17.

Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address:

Purpose: LEF1 encodes a transcription factor acting downstream of the WNT-β-catenin signaling pathway. It was recently suspected as a candidate for ectodermal dysplasia in 2 individuals carrying 4q35 microdeletions. We report on 12 individuals harboring LEF1 variants. Read More

Curr Eye Res 2022 May 16:1-10. Epub 2022 May 16.

Cells for Sight, University College London, London, UK.

Purpose: To investigate if human oral mucosal fibroblasts (HOMF) from patients with limbal stem cell deficiency (LSCD) can be used as an autologous feeder layer to support the culture of epithelial cells for potential clinical use.

Methods: HOMF were isolated from oral mucosal biopsies obtained from the following groups of patients with LSCD: aniridia, mucous membrane pemphigoid (MMP), Stevens-Johnson syndrome (SJS), and ectodermal dysplasia (ED). The ability of these cells to support the culture of human limbal epithelial cells (HLE) was compared to that of HOMF from non-LSCD donors and 3T3s commonly used to culture epithelial cells for use in the clinic to treat LSCD. Read More

Neurosurg Focus 2022 05;52(5):E1

4Department of Neurosurgery, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

Neurosurg Focus 2022 05;52(5):E2

1Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

Objective: Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. Read More

Neurosurg Focus 2022 05;52(5):E8

2Department of Neurological Surgery, Rutgers New Jersey Medical School, Newark, New Jersey.

Objective: Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Read More

Ophthalmol Ther 2022 May 9. Epub 2022 May 9.

Hoopes Vision Research Center, Hoopes Vision, 11820 S. State St. #200, Draper, UT, 84020, USA.

Ectodermal dysplasia (ED) involves the aberrant development of at least two ectodermal derivatives, such as skin, teeth, hair, sweat glands, and ocular tissue. The group of over 200 conditions is commonly classified into two major types: hypohidrotic/anhidrotic ED, in which sweat glands are either absent or significantly reduced, and hidrotic ED, in which sweat glands are normal. Ocular manifestations pertinent to patients undergoing corneal vision correction surgery include multifaceted dry eye syndrome, corneal pathology, such as recurrent erosions, scars, neovascularization, and limbal stem cell deficiency, and early-onset cataracts and glaucoma. Read More

Neurol India 2022 Mar-Apr;70(2):818-819

Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Ital J Pediatr 2022 May 4;48(1):65. Epub 2022 May 4.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.

Background: Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Read More

Eur J Obstet Gynecol Reprod Biol 2022 Jun 27;273:107-108. Epub 2022 Apr 27.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, China. Electronic address:

Photodiagnosis Photodyn Ther 2022 Jun 28;38:102890. Epub 2022 Apr 28.

Department of Dermatology, Shanghai Pudong New Area People's Hospital, Shanghai 201299, China. Electronic address:

A case of phakomatosis pigmentovascularis (PPV) type III a with a zosteriform distribution of nevus spilus as the main manifestation was reported. A 41-year-old man was born with a zosteriform distribution of pigmented rash on the left half-body, namely upper limb, shoulder and back. Physical examination revealed light brown pigments in a giant zosteriform distribution on the extensor side of the left upper limb and the left shoulder and back, with scattered brown spots and patches of variant sizes on the surface, which are consistent with the appearance of nevus spilus (NS). Read More

Curr Top Dev Biol 2022 28;148:13-50. Epub 2022 Feb 28.

Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Division of Plastic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States. Electronic address:

Cleft lip and cleft palate are common birth defects resulting from genetic and/or environmental perturbations of facial development in utero. Facial morphogenesis commences during early embryogenesis, with cranial neural crest cells interacting with the surface ectoderm to form initially partly separate facial primordia consisting of the medial and lateral nasal prominences, and paired maxillary and mandibular processes. As these facial primordia grow around the primitive oral cavity and merge toward the ventral midline, the surface ectoderm undergoes a critical differentiation step to form an outer layer of flattened and tightly connected periderm cells with a non-stick apical surface that prevents epithelial adhesion. Read More

J Oral Maxillofac Pathol 2022 Feb 28;26(Suppl 1):S12-S16. Epub 2022 Feb 28.

Department of Oral Pathology, VSPMDCRC, Nagpur, Maharashtra, India.

Ectodermal dysplasia represents a group of inherited conditions in which two or more ectodermally derived anatomical structures fail to develop resulting in most notably anhidrosis/hypohidrosis, hypotrichosis and hypodontia. It is a xlinked recessive disorder with male predominance. We report a classical case in a 17-year-old male with emphasis on review of literature and latest updates. Read More

Am J Med Genet A 2022 Jul 21;188(7):2036-2047. Epub 2022 Apr 21.

Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Read More

Biochem Biophys Res Commun 2022 06 9;610:15-22. Epub 2022 Apr 9.

Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; Biochemistry Laboratory, Istituto Dermopatico Immacolata (IDI-IRCCS), 00100, Rome, Italy. Electronic address:

The transcription factor p63, belonging to the p53 family, is considered the master regulator of epidermal differentiation, skin, and in general of the differentiation of ectodermal tissues. Mutations in TP63 gene cause several rare ectodermal dysplasia disorders that refers to epidermal structural abnormalities and ocular surface disease, such as Ectrodactyly Ectodermal Dysplasia Clefting (EEC) syndrome. In this review, we discuss the key roles of p63 in keratinocytes and corneal epithelial differentiation, highlighting the function of the ΔNp63α isoform in driving limbal stem cell and epithelial stem cells commitment. Read More