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J Pharmacol Exp Ther 2019 Apr 18. Epub 2019 Apr 18.

University of Pennsylvania;

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by defects in the EDA gene that inactivate the function of ectodysplasin A (EDA1). This leads to abnormal development of eccrine glands, hair follicles and teeth, and to frequent respiratory infections. Previous studies in the naturally occurring dog model demonstrated partial prevention of the XLHED phenotype by postnatal administration of recombinant ectodysplasin (Fc:EDA1; EDI200). Read More

Indian J Psychiatry 2019 Mar-Apr;61(2):217-218

Department of Psychiatry, Dr. S N Medical College, Jodhpur, Rajasthan, India.

Indian Dermatol Online J 2019 Mar-Apr;10(2):158-161

Department of Family Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy. Read More

Indian J Dermatol 2019 Mar-Apr;64(2):149-151

Department of Dermatology, Medical College, Kolkata, West Bengal, India.

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia that presents with a triad of reticulate hyperpigmentation, nonscarring alopecia, and nail dystrophy. We report herein a case of a 23-year-old male presenting with the characteristic triad associated with anhidrosis and palmoplantar keratoderma. Read More

Indian J Dermatol 2019 Mar-Apr;64(2):143-145

Department of Medical Genetics, Institute of Genomics and Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms - hypohidrotic and hidrotic. Clouston syndrome is a hidrotic ectodermal dysplasia characterized by a triad of generalized hypotrichosis, palmoplantar hyperkeratosis, and nail dystrophy. This paper reports a large Indian family with Clouston syndrome but with the absence of palmoplantar keratoderma, one of the features of the typical triad, thus representing phenotypic heterogeneity, in spite of the presence of a common known mutation in GJB6 gene (p. Read More

J Clin Immunol 2019 Apr 13. Epub 2019 Apr 13.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Br J Dermatol 2019 Apr 12. Epub 2019 Apr 12.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

ectodermal dysplasia (ED) is a group of hereditary disorders affecting the development of ectodermal organs. There are more than 200 types of ED caused by the mutations in approximately 50 genes. Nonetheless, the mutations in some genes have been found in only one family affected with ED. Read More

Cytogenet Genome Res 2019 Apr 12. Epub 2019 Apr 12.

Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes: EDA, EDAR, EDARADD, and WNT10A. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. Read More

Clin Immunol 2019 Apr 3;203:23-27. Epub 2019 Apr 3.

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam UMC, University of Amsterdam, Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Meibergdreef 9, Amsterdam, The Netherlands. Electronic address:

Genetic studies are identifying an increasing number of monogenic causes of Common Variable Immunodeficiency (CVID). Pathogenic variants in the C-terminus of NFKB2 have been identified in the subset of CVID patients whose immunodeficiency is associated with ectodermal dysplasia and central adrenal insufficiency. We describe 2 unrelated CVID pedigrees with 4 cases of pathogenic stop gain variants (c. Read More

J Coll Physicians Surg Pak 2019 Apr;29(4):381-383

Department of Oral Medicine and Radiology, Peoples Dental Academy, Bhopal, India.

Hereditary ectodermal dysplasia (HED) is a rare genetic disorder chiefly affecting ectodermally derived structures including hair, nails, sweat glands etc. with pathognomic manifestations such as hypotrichosis, hypohidrosis, and hypodontia. Hypohidrotic ectodermal dysplaisa, being the most frequently encountered subtype and HED, being the rare subtype. Read More

J Pharm Bioallied Sci 2019 Jan-Mar;11(1):102-104

Anwi's Multispeciality Dental Clinic, Calicut, Kerala, India.

Christ-Siemens-Touraine syndrome/hypohidrotic ectodermal dysplasia (HED) is a heterogeneous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail, and sweat glands. To date, more than 192 distinct disorders have been described. Here we present a case of 19-year-old female patient that manifested with HED (Christ-Siemens-Touraine syndrome). Read More

Orbit 2019 Mar 20:1-4. Epub 2019 Mar 20.

b Govindram Seksaria Institute of Dacryology , L. V. Prasad Eye Institute , Hyderabad , India.

Purpose: To evaluate the outcomes of powered endoscopic dacryocystorhinostomy (DCR) in syndromic individuals with congenital nasolacrimal duct obstruction (CNLDO).

Methods: A retrospective multicenter case series of patients who required a primary powered endoscopic DCR for refractory CNLDO associated with syndromes or congenital craniofacial abnormalities was performed. A minimum follow-up of more than 6 months was considered for final analysis. Read More

J Dent Child (Chic) 2018 Sep;85(3):139-142

Assistant professor, Department of Pediatric Dentistry, at The Dental College of Georgia at Augusta University, Augusta, Georgia, in the USA.

Restoring the dental and facial esthetics in a growing patient with ectodermal dysplasia (ED) is fundamental to improve psychosocial issues, esthetics, and function. The purpose of this clinical report was to present a simple, fast, and cost-effective technique to re-establish a pleasant smile of an eight-year-old male patient with hypohydrotic ED. A vacuum-formed overdenture prosthesis is described, which is recommended as an immediate interim restorative treatment in the maxillary arch with excellent stability and retention. Read More

J Hum Genet 2019 May 6;64(5):499-504. Epub 2019 Mar 6.

Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.

The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAF variant, p.Leu485del. Read More

Int Immunol 2019 Mar 6. Epub 2019 Mar 6.

Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM).

Autoinflammatory syndromes are a group of disorders characterised by recurring episodes of inflammation as a result of specific defects in the innate immune system. Patients with autoinflammatory disease present with recurrent outbreaks of chronic systemic inflammation that are mediated by innate immune cells, for the most part. A number of these diseases arise from defects in the tumour necrosis factor (TNF) receptor signalling pathway leading to elevated levels of inflammatory cytokines. Read More

J Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Read More

Arch Soc Esp Oftalmol 2019 Apr 19;94(4):165-170. Epub 2019 Feb 19.

Oftalmología, Hospital Universitario Reina Sofía de Murcia, Murcia, España.

Introduction: Hypohidrotic ectodermal dysplasia (HED) is a rare disease that results from the abnormal development of the ectodermal germ layer in early embryogenesis. In these patients, hypoplasia of Meibomian glands is one of the most frequent ophthalmological manifestations. The main aim of this study is to evaluate the usefulness of meibography for the morphology of Meibomian glands in a group of patients with HED, and to compare it with a control group. Read More

Clin Implant Dent Relat Res 2019 Apr 21;21(2):310-316. Epub 2019 Feb 21.

Second Dental Clinic, Department of Oral Implantology, Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University, School of Medicine, National Clinical Research Center for Oral Disease, Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai, China.

Background: Abnormalities of some facial bones derived from the ectomesenchyme have been found in ectodermal dysplasia (ED) patients, but the characteristics of the zygoma are unknown.

Purpose: Comparison between ED patients and normal individuals to understand the anatomical features of the zygoma in ED patients.

Materials And Methods: Thirty patients diagnosed with ED based on clinical features and/or gene sequence tests and 80 normal individuals were recruited from 2016 to 2018. Read More

Clin Genet 2019 May 19;95(5):601-606. Epub 2019 Mar 19.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

The GTPBP2 gene encodes a guanosine triphosphate (GTP)-binding protein of unknown function. Biallelic loss-of-function variants in the GTPBP2 gene have been previously reported in association with a neuro-ectodermal clinical presentation in six individuals from four unrelated families. Here, we provide detailed descriptions of three additional individuals from two unrelated families in the context of the previous literature. Read More

Ocul Surf 2019 Feb 8. Epub 2019 Feb 8.

Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, United States.

Purpose: Glaucoma is the leading cause of vision loss in eyes with Boston Keratoprosthesis (KPro). Glaucoma drainage devices (GDDs) have been shown to be effective in controlling glaucoma with KPro. Cicatricial conjunctival disease with forniceal shortening is a major challenge and limitation to the use of GDD. Read More

Asia Pac Allergy 2019 Jan 14;9(1):e3. Epub 2019 Jan 14.

Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, Kanagawa, Japan.

Anhidrotic ectodermal dysplasia (AED) is a rare hereditary disorder with a triad of sparse hair, dental hypoplasia, and anhidrosis. Here we report a case of AED with food allergy and atopic eczema. The patient was a 11-month-old boy admitted to our hospital with pyrexia for 2 weeks. Read More

Spec Care Dentist 2019 Mar 5;39(2):236-240. Epub 2019 Feb 5.

Professor of Pediatric Dentistry, Department of Pediatric Dentistry and Dental Public Health, Faculty of Dentistry, Alexandria University, Egypt.

Ectrodactyly ectodermal dysplasia with clefting is a rare syndrome resulting from TP63 gene mutations. It is inherited in autosomal dominant manner or as a de novo transfiguration. It is characterized by a triad of ectodermal dysplasia, ectrodactyly, and facial clefts. Read More

Am J Med Genet A 2019 Mar 31;179(3):442-447. Epub 2019 Jan 31.

Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD.

An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e. Read More

Int J Prosthodont 2019 Jan/Feb;32(1):107-109

This case history report describes the dental management of a child with ectodermal dysplasia with the premise that appropriate and early dental management positively impacts the oral health-related quality of life of such patients, irrespective of the age at which treatment is initiated. Read More

Fam Cancer 2019 Jan 22. Epub 2019 Jan 22.

Parkville Familial Cancer Centre, The Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Parkville, VIC, Australia.

The AXIN2 gene, like APC, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations in AXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. There is a paucity of published AXIN2 families making genotype-phenotype (polyposis, colorectal cancer and oligodontia) correlations challenging. Read More

Minerva Stomatol 2019 Feb;68(1):42-56

Section of Oral and Maxillofacial Surgery, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

Introduction: Dental agenesis is the congenital absence of a variable number of teeth due to the lack of formation of the corresponding tooth germ. The aim of this work was to investigate the syndromic conditions characterized by dental agenesis.

Evidence Acquisition: Based on the research conducted through the OMIM® (Online Mendelian Inheritance in Man) and PubMed online databases, more than ninety syndromes associated with severe or moderate agenesis have been found. Read More

Case Rep Dent 2018 29;2018:4736495. Epub 2018 Nov 29.

Clinical Assistant Professor, Department of Biological and Material Sciences, School of Dentistry, University of Michigan, Ann Arbor, Michigan, USA.

Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder that associates with dental manifestations of anodontia, hypodontia, and atrophic alveolar ridges. Although the disorder does not affect the life expectancy of the patient, it poses tremendous challenges on the patient's physical and psychosocial development. Early and multidisciplinary dental care can benefit HED children's development and improve their quality of life. Read More

Clin Genet 2019 Mar;95(3):427-432

Center for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition resulting from defective development of ectodermal derivatives, such as hair, teeth, and sweat glands. Autosomal recessive (AR) forms of HED may be caused by pathogenic variants of the ectodysplasin A1 receptor (EDAR) gene that encodes a receptor involved in the NF-κB signaling pathway. Here, we describe three cases of AR-HED in families of Turkish, Austrian, and German-American origin (with or without known consanguinity). Read More

Int J Dermatol 2019 Jan 8. Epub 2019 Jan 8.

Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu, China.

Stem Cell Res 2019 Jan 21;34:101379. Epub 2018 Dec 21.

Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China. Electronic address:

EDA is a gene located at Xq13.1. It encodes different isoforms of tumor necrosis factor (TNF) superfamily member ectodysplasin A. Read More

Am J Orthod Dentofacial Orthop 2019 Jan;155(1):127-134

Department of Periodontoloty, Medical University of Warsaw, Warsaw, Poland.

Tooth autotransplantation is performed in patients with congenitally missing teeth and those with traumatic tooth loss. We report a course of edgewise treatment of a girl with multiple congenitally missing teeth and residual features of ectodermal dysplasia, who was treated with autotransplantation of 2 premolars with developing roots. She was 8 years old at the beginning of the treatment. Read More

Case Rep Pediatr 2018 21;2018:5189062. Epub 2018 Nov 21.

Radiology Department, University of Liege, Centre Hospitalier Regional de la Citadelle, Bld du 12eme de Ligne 1, 4000 Liege, Belgium.

Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. Read More

Am J Med Genet A 2019 Jan 20;179(1):57-64. Epub 2018 Dec 20.

Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing, PR China.

Odonto-onycho-dermal dysplasia (OODD) is a rare autosomal recessive syndrome characterized by multiple ectodermal abnormalities. Mutations of the wingless-type MMTV integration site family member 10A (WNT10A) gene have been associated with OODD. To date, only 11 OODD-associated WNT10A mutations have been reported. Read More

Eur J Paediatr Dent 2018 Dec;19(4):307-312

Dean School of Dentistry, Chair of Orthodontics, Catholic University of the Sacred Heart, Rome, Italy.

Aim: The treatment of a complex case of hypohidrotic ectodermal dysplasia (HED) with severe oligodontia.

Case Report: A 6 years old boy with HED, was treated with an orthodontic/prosthetic modular appliance. The device is custom made and consists of two parts, upper and lower, which were partially removable and partially fixed. Read More

Cell Rep 2018 Dec;25(12):3490-3503.e4

Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

Transcription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. However, the underlying molecular mechanism of these mutations remains unclear. Read More

Pediatr Dermatol 2019 Jan 18;36(1):e58-e59. Epub 2018 Dec 18.

Medway NHS Foundation Trust, Gillingham, UK.

We present a rare case of focal facial dermal dysplasia type 4 (FFDD4) in an otherwise healthy boy infant, presenting as bilateral preauricular scarlike defects surrounded by a hair collar, resembling membranous aplasia cutis congenita. The presence of a hair collar supports the hypothesis that FFDD is caused by abnormal closure at facial embryonic fusion lines, but unlike midline scalp defects is not associated with neurological compromise. Other types of FFDD occur at different sites and can be associated with cranial dysgraphism. Read More

Ochsner J 2018 ;18(4):345-350

Department of Pediatric Dentistry, Medical University of South Carolina, James B. Edwards College of Dental Medicine, Charleston, SC.

Background: Tooth agenesis, the congenital absence of one or more teeth, can be diagnosed in children in the first decade of life. Tooth agenesis is a phenotypic feature of conditions such as ectodermal dysplasia, cleft lip, cleft palate, Down syndrome, and Van der Woude syndrome. Tooth agenesis can also be nonsyndromic. Read More

Pediatr Endocrinol Rev 2018 Dec;16(2):275-283

Medical School, Mohammed VI Hospital 4806, 60049 Oujda, Morocco, E-mail:

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. Read More

Zhonghua Kou Qiang Yi Xue Za Zhi 2018 Dec;53(12):858-861

Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University & State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Chengdu 610041, China.

The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), NS with multiple lentigines (NSML), neu-rofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

J Glaucoma 2019 Apr;28(4):e58-e60

Glaucoma and Anterior Segment, Dr Shroff's Charity Eye Hospital, New Delhi, Delhi, India.

Ectodermal dysplasia (ED) is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ED, the most common being hypohidrotic ED. It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth), and hypohidrosis (reduced ability to sweat). Read More

Pediatr Int 2018 Nov;60(11):1036-1037

Department of Pediatric Cardiology, Okinawa Children's Medical Center, Okinawa, Japan.

BMC Med Genet 2018 Dec 7;19(1):209. Epub 2018 Dec 7.

Department of Prosthodontics, Changsha Stomatological Hospital, Changsha, 410004, Hunan, China.

Background: Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c. Read More

Indian Dermatol Online J 2018 Nov-Dec;9(6):448-451

Department of Dermatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Read More

J Comp Pathol 2018 Nov 25;165:57-61. Epub 2018 Oct 25.

Frederick National Laboratory for Cancer Research, National Cancer Institute, Fort Detrick, Frederick, Maryland, USA.

A 7-week-old male black Labrador retriever puppy was presented for post-mortem examination following progressive hindlimb paralysis and multiple masses within the skin. A highly compressive and infiltrative intradural mass was found within the T9-T11 spinal cord. Microscopical and immunohistochemical analysis revealed features compatible with spindle cell rhabdomyosarcoma (RMS). Read More

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):473-475

National Orthopaedic Hospital, Bahawalpur, Pakistan.

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B. Read More

Indian J Ophthalmol 2018 Dec;66(12):1869-1871

Department of Vitreo-Retinal Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, Tamil Nadu, India.

Wyburn-Mason syndrome is associated with unilateral retinal racemose hemangioma. Rarely, it presents with bilateral and symmetrical grade of malformation. We describe a 37-year old male, who presented with Wyburn-Mason syndrome presenting with bilateral but asymmetrical retinal hemangioma. Read More

J Clin Invest 2019 Feb 18;129(2):583-597. Epub 2018 Dec 18.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) are caused by loss-of-function and hypomorphic IKBKG (also known as NEMO) mutations, respectively. We describe a European mother with mild IP and a Japanese mother without IP, whose 3 boys with EDA-ID died from ID. We identify the same private variant in an intron of IKBKG, IVS4+866 C>T, which was inherited from and occurred de novo in the European mother and Japanese mother, respectively. Read More

Oral Dis 2019 Mar 7;25(2):523-534. Epub 2018 Dec 7.

Second Dental Clinic, Department of Oral Implantology, Ninth People's Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai Jiao Tong University, Shanghai, China.

Objectives: To identify potentially pathogenic mutations for tooth agenesis by whole-exome sequencing.

Subjects And Methods: Ten Chinese families including five families with ectodermal dysplasia (syndromic tooth agenesis) and five families with selective tooth agenesis were included. Whole-exome sequencing was performed using genomic DNA. Read More

Eur J Dermatol 2018 Oct;28(5):704-705

Department of Dermatology, Sapporo Medical University School of Medicine, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan.