Rapp-Hodgkin Syndrome with palmoplantar keratoderma

Rapp-Hodgkin syndrome is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. We describe a 15-year-old male who has Rapp-Hodgkin syndrome that is associated with a palmoplantar keratoderma.

Whole exome sequencing revealed a large deletion in EDAof a Vietnamese patient with hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) (OMIM # 305100) is a congenital genetic disorder caused by mutations in EDA (NM_001399) on chromosome X. Children with HED have the abnormal development of epidermal structures such as skin, hair, nails, teeth, and sweat glands. The present study aimed to detect mutations in EDA of a Vietnamese family with a son having only five teeth and no sweat glands, using whole exome sequencing (WES) and multiplex PCR. The results showed that patient had a deletion of exon 1 in EDA (c.2_396del), which is likely to be inherited from the healthy mother. The results will partly contribute to molecular studies on HED, helping in genetic counseling and disease treatment.

Noninvasive Multi-Disciplinary Management of Ectodermal Dysplasia with Hyposalivation – A Case Report

Ectodermal dysplasia (ED) is a rare genetic condition with nearly 200 documented traits. As the name states, ED targets tissues derived from ectoderms, such as hair, skin, nails, sweat glands, and teeth. Other orofacial structures might be affected, such as salivary glands and hard palate. Lack of teeth and diminished facial height can impact negatively on child growth and psychological well-being. Therefore, assessment and an interdisciplinary management plan of orofacial components of ED children should be installed as early as possible. Here we report an early assessment and multi-disciplinary management of ED child’s orofacial structures, which allow restoration of facial height and dental function and saliva reduction by the least invasive restorative approach in the form of the composite build-up of microdont and overdentures. It also highlights the importance of periodic evaluation of growth and treatment plan adjustment as an integral part of the transitional management until the age of a definite dental treatment.

Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles

Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants.

A Hybrid Oral Rehabilitation of Hypohidrotic Ectodermal Dysplasia: A Conservative Approach with Three-Year Follow-Up

This case report presents a 19-year-old male patient with hypohidrotic ectodermal dysplasia, having a chief complaint of multiple missing teeth. Atraumatic extraction of the teeth with hopeless prognosis was done, and teeth with grade 2 mobility were submerged using cast dowel and coping. Following this, incremental increase in the vertical dimension was made using removable flexible splint of two-millimeter thickness. After facebow transfer and making appropriate eccentric bite records to program the semiadjustable articulator, wax-up was done at the desired vertical dimension (VD). The upper arch was finally restored using a long-span fixed partial denture and lower arch using bilateral attachment (Rhein 83) retained cast removable partial denture as a definitive prosthesis. Therefore, in conditions like hypodontia or oligodontia caused due to ectodermal dysplasia, attachment retained removable partial denture may prove beneficial by effectively distributing the occlusal forces. In clinical scenarios where implant is not feasible or not opted by the patient, this combination treatment may be a viable option.

Ectodysplasin A/Ectodysplasin A Receptor System and Their Roles in Multiple Diseases

Ectodysplasin A (EDA) is a member of the tumor necrosis factor (TNF) family of ligands that was initially reported to induce the formation of various ectodermal derivatives during normal prenatal development. EDA exerts its biological activity as two splice variants, namely, EDA-A1 and EDA-A2. The former binds to the EDA receptor (EDAR), resulting in the recruitment of the intracellular EDAR-associated death domain (EDARADD) adapter protein and the activation of the NF-κB signaling pathway, while the latter binds to a different receptor, EDA2R, also known as X-linked ectodermal dysplasia receptor (XEDAR). Inactivation mutation of the EDA gene or the genes coding for its receptors can result in hypohidrosis ectodermal dysplasia (HED), a condition that is characterized by oligotrichosis, edentulosis or oligodontia, and oligohidrosis or anhidrosis. Recently, as a new liver factor, EDA is gradually known and endowed with some new functions. EDA levels were observed to be upregulated in several metabolic diseases, such as non-alcoholic fatty liver disease (NAFLD), obesity, and insulin resistance. In addition, EDA and its receptors have been implicated in tumor pathogenesis through the regulation of tumor cell proliferation, apoptosis, differentiation, and migration. Here, we first review the role of EDA and its two-receptor system in various signaling pathways and then discuss the physiological and pathological roles of EDA and its receptors.