Ectodermal Tissues Research Articles

Improving Quality Of Life Through Prosthodontic Intervention In Ectodermal Dysplasia: A Case Report

Ectodermal dysplasia (ED) is a rare inherited disorder that affects ectodermal tissues such as hair, nails, teeth, and skin. Dental symptoms often include missing (anodontia) or reduced (hypodontia) primary and permanent teeth, conical teeth, and underdeveloped alveolar ridges. These orofacial issues frequently lead to psychosocial challenges, making the restoration of appearance and function particularly demanding. Hypohidrotic (anhidrotic) ED and hidrotic ED are the two most common syndromes in this group. The most prevalent form of ectodermal dysplasia is hypohidrotic ectodermal dysplasia (HED), which occurs in approximately one in every 100,000 infants. The primary symptoms of HED include hypohidrosis (reduced ability to sweat), hypotrichosis (sparse hair), and partial anodontia (missing teeth). Common facial features of ED include frontal bossing, sunken cheeks, saddle nose, thick everted lips. Treatment options for ED include removable, fixed, or implant-supported prostheses, either alone or in combination. This report describes the prosthetic rehabilitation of a patient with ED, focusing on improving both function and aesthetics

A CHALLENGING DIAGNOSIS OF POSTERIOR VAGINAL WALL DERMOID CYST ALONG WITH ANTERIOR FISTULA-IN-ANO: A CASE REPORT

A dermoid cyst is a cystic swelling due to the entrapment of ectodermal tissue that occurs in the line of embryonic fusion. In which vaginal dermoid cyst is a sporadic condition, documented less than ten in literature. Fistula-in-ano is a well-known clinical entity with variable aetiology, an extension of the blind tract, and a variation of treatment in the protocol. A 42-year-old female presented with complaints of pain in the perianal region aggravated during defecation, along with dropwise bleeding in the last 2 days. On examination, late second-degree pile mass at 11 ‘O’clock, induration between 12 to 1 ‘O’ clock with hard swelling in the vaginal wall and internal opening at 12 ‘O’clock. As there was no abnormality detected in PV except a hard mass at the posterior vaginal wall. Diagnostic findings revealed the collection of abscesses in the perineum and cystic enlargement in the posterior vaginal wall, possibly due to an infected Bartholin cyst. The patient was operated on for fistula-in-ano and a biopsy of the cystic swelling at the vaginal wall. The swelling was surgically removed during the operation, and cheesy white stuff emerged. After the sac was sent for a biopsy, the benign squamous epithelium in the histopathology report confirmed the dermoid cyst diagnosis. The patient got complete relief from pain in the perianal region within six weeks of treatment. Vaginal dermoid cysts though rarest of rare, must be kept for differential diagnosis of vaginal cysts, which is a common occurrence in anterior fistula-in-ano.

Filum terminale infected epidermoid cysts in pediatric age group; A case series

BackgroundEpidermoid cysts are rare and account for only 1 % of primary spinal tumors. It's due to inclusion of ectodermal tissue during the third and fourth weeks of gestation. Infected epidermoid cysts are exceedingly rare with very few reports in literature. The clinical presentations include radicular symptoms, motor weakness, sphincteric disturbance, and repeated chemical meningitis. Surgery of this kind of tumor remained a challenge and of a considerable recurrence rate. MethodsThis is a retrospective study reviewing the records of six children who were treated for filum terminale infected epidermoid cysts. All patients underwent microsurgery, and the surgical outcomes were studied through a follow up period of at least 24 months. ResultsAll children had a low back dermal sinus with purulent discharge. One child was a recurrent presentation after the previous two surgeries for evacuation of pus collection, and the other five children were operated for the first time. All the six children had an associated neurological deficit; one child presented with active central nervous system infection, and one child had a history of meningitis and admission to hospital prior to our surgery. Regular follow up revealed no recurrence in any of the six patients. The five patients, who presented with motor weakness, showed significant improvement of the motor power with regular post-operative physical therapy. ConclusionEpidermoid cysts are rare benign lesions that may lead to significant morbidity when infected. The aim of microsurgical excision is to remove the cyst content and its capsule without inducing or increasing neurological deficit by the aid of intraoperative neuromonitoring and microsurgery techniques.

Chicken embryo cultures in the dorsal-upward orientation for the manipulation of epiblasts.

Chicken embryos have many advantages in the study of amniote embryonic development. In particular, culture techniques developed for early-stage embryos have promoted the advancement of modern developmental studies using chicken embryos. However, the standard technique involves placing chicken embryos in the ventral-upward (ventral-up) orientation, limiting manipulation of the epiblast at the dorsal surface, which is the primary source of ectodermal and mesodermal tissues. To circumvent this limitation, we developed chicken embryo cultures in the dorsal-up orientation and exploited this technique to address diverse issues. In this article, we first review the history of chicken embryo culture techniques to evaluate the advantages and limitations of the current standard technique. Then, the dorsal-up technique is discussed. These technological discussions are followed by three different examples of experimental analyses using dorsal-up cultures to illustrate their advantages: (1) EdU labeling of epiblast cells to assess potential variation in the cell proliferation rate; (2) migration behaviors of N1 enhancer-active epiblast cells revealed by tracking cells with focal fluorescent dye labeling in dorsal-up embryo culture; and (3) neural crest development of mouse neural stem cells in chicken embryos.

Lobster-claw malformation pointing to the rare Goltz syndrome

Goltz syndrome, or focal dermal hypoplasia, is an X-linked dominant disorder characterized by multiple abnormalities of mesodermal and ectodermal tissues. It presents with a combination of cutaneous, skeletal, dental, and ocular manifestations. Herein, we present a 5-year-old girl with Goltz syndrome and discuss the various presentations of this syndrome in association with the available literature.

Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report

BackgroundEctrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome mainly affects ectodermal and mesodermal tissues. It is usually manifested as split hands and feet, ectodermal dysplasia, and orofacial clefting, along with other signs and symptoms. A multidisciplinary approach to treatment is required, in which dentists play an important role in identifying and treating various oral conditions that may be genetically linked to or may be the result of EEC syndrome.Case presentationThe present case describes the oral condition of a young child suffering from EEC syndrome and presenting with peripheral giant cell granuloma (PGCG) in the mandibular anterior region. After obtaining a thorough medical and family history and a clinical examination, the lesion was surgically excised under local anesthesia. The patient was followed up at periodic intervals for the next twenty four months, during which no recurrence of the lesion was observed.ConclusionThis report highlights the role of a dentist in the management of the oral conditions of patients suffering from EEC syndrome.

Ectodermal dysplasia (DE) and its main characteristics

Ectodermal dysplasia (ED) is a rare genetic disorder that affects the development of ectodermal tissues and includes organs of the body such as: skin, hair, nails, teeth, and sweat glands. Therefore, this condition can be seen from birth and has different levels of severity. In addition, it is known that there is one case for every 10,000 to 100,000 children born, making it essential to diagnose the dentist for alteration problems in any of the identified areas. The method to be included is a case study in a 5-month-old male patient, after DNA diagnosis and prenatal type to the second semester with skin biopsy, ED characteristics were identified. The results identified a 5-month-old male, born at 39 weeks and 3 days, with 3150 grams, height 49 centimeters, scaly lesions are observed on the skin throughout the body, marbled skin, mild pyelocalyceal ectasia, in addition to the absence of of hair, eyebrows and eyelashes, after the DNA test with prior informed consent, the existence of ED was confirmed. Finally, it is concluded that ED is a genetic disorder, as presented in the case study, and that the most common is dyshidrotic ectodermal dysplasia.

Congenital cervical teratoma

: Teratoma, originating from the Greek word "teras" meaning "monster," reflects its diverse tissue composition, often containing ectodermal, mesodermal, and endodermal tissues. These embryonic germ layers contribute to the rarity of teratomas in the neck, though they are more commonly found in the sacrococcygeal area. Notably, teratomas occurring in the cervical region can lead to life-threatening symptoms due to their mass effect.: A 26-year-old multiparous woman highlighted the challenges of managing cervical teratomas. During her 38th week of gestation, an ultrasound revealed a tumour on the foetus's neck, measuring 5.2 x 4.7 cm with doppler, neovascularization, and solid parts suspected to be a teratoma. The patient, despite no prior illness, had not taken prescribed vitamins during pregnancy. She underwent a caesarean section, delivering a baby girl weighing 3100 grams with an Apgar score of 8, who was found to have a solid mass in the posterior neck. The baby underwent surgery three days later, where 200-gram mass was removed and identified as a mature teratoma through anatomical pathology examination. The successful surgery allowed the mother and baby to return home in good condition.: Teratomas emphasized their diverse nature, with cervical teratomas mostly affecting females and originating from early aberrant germ cells. These tumours, often neuroepithelial, rarely become malignant. Diagnosis involves prenatal ultrasonography, aiding in intervention planning, while postnatal imaging guides surgical approaches.: Congenital teratomas pose challenges in prenatal diagnosis and management, requiring a multidisciplinary approach. Early detection through antenatal imaging, surgical excision, and meticulous follow-up are crucial for optimal outcomes, emphasizing the importance of comprehensive care and collaboration across medical specialties.

Diffusion Analysis of Intracranial Epidermoid, Head and Neck Epidermal Inclusion Cyst, and Temporal Bone Cholesteatoma.

Intracranial epidermoids temporal bone cholesteatomas, and head and neck epidermal inclusion cysts are typically slow-growing, benign conditions arising from ectodermal tissue. They exhibit increased signal on DWI. While much of the imaging literature describes these lesions as showing diffusion restriction, we investigated these qualitative signal intensities and interpretations of restricted diffusion with respect to normal brain structures. This study aimed to quantitatively evaluate the ADC values and histogram features of these lesions. This retrospective study included children with histologically confirmed diagnoses of intracranial epidermoids, temporal bone cholesteatomas, or head and neck epidermal inclusion cysts. Lesions were segmented, and voxelwise calculation of ADC values was performed along with histogram analysis. ADC calculations were validated with a second analysis software to ensure accuracy. Normal brain ROIs-including the cerebellum, white matter, and thalamus-served as normal comparators. Correlational analysis and Bland-Altman plots assessed agreement among software tools for ADC calculations. Differences in the distribution of values between the lesions and normal brain tissues were assessed using the Wilcoxon rank sum and Kruskal-Wallis tests. Forty-eight pathology-proved cases were included in this study. Among them, 13 (27.1%) patients had intracranial epidermoids 14 (29.2%) had head and neck epidermal inclusion cysts, and 21 (43.7%) had temporal bone cholesteatomas. The mean age was 8.67 (SD, 5.30) years, and 27 (56.3%) were female. The intraclass correlation for absolute agreement for lesional ADC between the 2 software tools was 0.997 (95% CI, 0.995-0.998). The intracranial epidermoid head and neck epidermal inclusion cyst, and temporal bone cholesteatoma median ADC values were not significantly different (973.7 versus 875.7 versus 933.2 × 10-6 mm2/s, P = .265). However, the ADCs of the 3 types of lesions were higher than those of 3 normal brain tissue types (933 versus 766, × 10-6 mm2/s, P < .001). The ADC values of intracranial epidermoids, temporal bone cholesteatomas, and head and neck epidermal inclusion cysts are higher than those of normal brain regions. It is not accurate to simply classify these lesions as exhibiting restricted diffusion or reduced diffusivity without considering the tissue used for comparison. The observed hyperintensity on DWI compared with the brain is likely attributable to a relatively higher contribution of the T2 shinethrough effect.

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature

BackgroundHypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED can be caused by various genes, the EDA, EDAR, EDARADD, and WNT10A genes account for approximately 90% of cases. Notably, HED forms associated with variants in the EDA, EDAR, or EDARADD genes may exhibit similar phenotypes due to defects in a common signaling pathway. Proper interaction among the products of these genes is crucial for the activation of the nuclear factor (NF-κB) signaling pathway, which subsequently regulates the transcription of targeted genes. The EDARADD gene, in particular, harbors one of the rarest reported variants associated with HED.Case presentationFive-and two-years-old brothers born into consanguineous parents were examined at our outpatient medical genetics clinic at Sanliurfa Training and Research Hospital, Turkey. Both displayed the same classical phenotypic features of HED. The elder had a very sparse dark and brittle hair, sparse eyebrows and eyelashes, conical upper and lower premolar teeth with hypodontia, widely spaced teeth, very dry skin, mildly prominent forehead, and periorbital wrinkles. The younger one showed the same, but less severe, clinical features. After thorough examination and patient history evaluation, targeted next-generation sequencing analysis yielded the novel homozygous insertion variant c.322_323insCGGGC p.(Arg108ProfsTer7) in EDARADD. The mutation has not been reported to date in the literature.ConclusionsIn this report, we present two siblings exhibiting classical HED symptoms and a novel insertion variant of the EDARADD gene, which leads to a frameshift introducing a stop codon. Both brothers inherited such mutation from their parents, who were heterozygous carriers of the same variant. The present study may shed light about the pathogenic mechanisms underlying HED, and expand the spectrum of EDARADD gene variants associated with this condition.

Ectodermal origin and tissue dedifferentiation in the podocyst production by the polyps of the Asian moon jelly (Aurelia coerulea).

The histological origin of podocysts in scyphozoans has long been undetermined, with uncertainty whether they arise from mesenchymal amoebocytes or stalk and pedal disc ectoderm in polyps. Histological investigation on the pedal disc was difficult due to the settlement of polyps on hard substrates. In this study, we investigated the histological characteristics of polyps during podocyst production in Asian moon jelly (Aurelia coerulea) with utilizing those attached on thin polystyrene substrates. Fine histological features of the pedal disc became possible after the substrates were decomposed during histological processing. Our findings unequivocally demonstrate that the cell mass of podocysts originates from the ectoderm of the pedal disc and the stalk without the involvement of amoebocytes in the mesoglea. Preceding the podocyst formation, the pedal disc undergoes enlargement facilitated by the elongated stalk ectodermal cells, which attach to a substrate. Subsequently, the pedal disc ectoderm give rise to the primary podocyst cells with accumulating nutrient granules in the cytoplasm and forming the cyst capsule cooperatively with the invaginated pedal disc ectoderm. Direct transformation from the ectodermal cells to podocyst cells suggests that podocyst formation involves tissue dedifferentiation. Throughout the period of podocyst production, the gastrodermis of polyps is physically separated from the ectoderm by the mesoglea and shows no histological changes, and no amoebocytes appear in the mesoglea. These histological properties are totally different from those in other modes of asexual reproduction, which incorporate the endoderm of polyps, suggesting the developmental and evolutionary differences between these asexual reproductions and podocyst production in Scyphozoa.

Effect of botulinum toxin A on tyrosinase and melanin: A literature review

Background: Melanogenesis is the process of forming melanin pigment initiated by the amino acid L-tyrosine; the main enzyme is tyrosinase. Tyrosinase acts as a catalyst for the hydroxylation reaction of L-tyrosine to L-DOPA and the oxidation of o-diphenol to dopaquinone. Under physiological conditions, the above process can be protective for the skin. However, if it occurs chronically and the melanogenesis process is uncontrolled, the above process can cause hyperpigmentation. One modality that is being researched for its usefulness in the world of anti-aging as anti-hyperpigmentation agent is botulinum toxin A. Literature review: Botulinum toxin A can inhibit the release of acetylcholine in nerve cells. Melanocytes originate from ectodermal tissue such as nervous tissue; it is hypothesized that this modality can also influence melanosomes directly on keratinized cells to form cross-dendritic connections. This was proven by SH-SY5Y neuroblastoma cells which had increased levels of botulinum toxin A, but not human dermal fibroblast cells. Botulinum toxin A is also hypothesized to indirectly impact the melanogenesis process by inhibiting pro-inflammatory cytokines mediated by the interaction of melanocytes, keratinocytes, and fibroblasts. Inhibition of pro-inflammatory cytokine production inhibits the melanin biosynthesis process. This assumption was proven by a decrease in three pro-inflammatory cytokines such as basic fibroblast growth factor (bFGF), interleukin (IL)-1a, and prostaglandin E2 in keratinocytes Conclusion: Intradermal injection of the botulinum toxin A has the potential to modulate tyrosinase enzyme and melanin synthesis. Botulinum toxin A can modulate melanin synthesis by directly inhibiting melanin synthesis in melanocytes and indirectly by modulating the interaction between melanocytes, keratinocytes, and fibroblasts.

Epidermoid Cyst of the Maxillary Sinus: A Case Report and Literature Review.

Epidermoid cysts are rare benign lesions that can derive from abnormally situated ectodermal tissue during embryological development or from implanted epithelium after trauma or surgery. In the oral and maxillofacial regions, epidermoid cysts usually develop in the floor of the mouth and rarely in other sites. We describe a rare case of an epidermoid cyst arising in the right maxillary sinus. A 29-year-old man with a known diagnosis of Marfan syndrome presented with progressive swelling and tenderness in the right buccal region, mimicking facial cellulitis, and refractory to medical treatment. Computed tomography scan showed a cystic lesion extending widely into the right maxillary sinus. The cyst was successfully removed with a medial maxillectomy through inferior antrostomy approach under general anesthesia. Histological examination confirmed the diagnosis of an epidermoid cyst, showing a cystic wall lined with a thin layer of keratinizing squamous epithelium and fibroma connective tissue infiltrated with inflammatory cells, with no skin appendages. There has been no evidence of recurrence during the 4 year follow-up. We also conduct a review of the English literature for the reported cases of maxillary epidermoid cyst.

Shrimp classification for white spot syndrome detection through enhanced gated recurrent unit-based wild geese migration optimization algorithm.

The major dangerous viral infection for cultivated shrimps is WSSV. The virus is extremely dangerous, spreads swiftly, and may result in up to 100% mortality in 3-10days. The vast wrapped double stranded DNA virus known as WSSV describes a member of the Nimaviridae viral family's species Whispovirus. It impacts a variety of crustacean hosts but predominantly marine shrimp species that are raised for commercial purposes. The entire age groups are affected by the virus, which leads to widespread mortality. Mesodermal and ectodermal tissues, like the lymph nodes, gills, and cuticular epithelium, represents the centres of infection. Complete genome sequencing related to the WSSV strains from Thailand, China, and Taiwan has identified minute genetic variations amongst them. There exist conflicting findings on the causes of WSSV pathogenicity, which involve variations in the size associated with the genome, the count of tandem repeats, and the availability or lack of certain proteins. Hence, this paper plans to perform the shrimp classification for the WSSV on the basis of novel deep learning methodology. Initially, the data is gathered from the farms as well as internet sources. Next, the pre-processing of the gathered shrimp images is accomplished using the LBP technique. These pre-processed images undergo the segmentation process utilizing the TGVFCMS approach. The extraction of the features from these segmented images is performed by the PLDA technique. In the final step, the classification of the shrimp into healthy shrimp and WSSV affected shrimp is done by the EGRU, in which the parameter tuning is accomplished by the wild GMO algorithm with the consideration of accuracy maximization as the major objective function. Performance indicators for accuracy have been compared with those of various conventional methods, and the results show that the methodology is capable of accurately identifying the shrimp WSSV illness.

Prosthetic Rehabilitation of a Three-year-old Child with Ectodermal Dysplasia: A Case Report

Ectodermal Dysplasia (ED) is a rare congenital syndrome that exhibits defects in two or more ectodermal tissues. Dental manifestations include delayed eruption of permanent dentition, complete absence of teeth or absence of a few teeth, and peg-shaped teeth. This condition is typically diagnosed by a dentist when parents bring their child with complaints of absent/delayed eruption of primary teeth. Hypohidrotic ED with true anodontia is an extremely rare condition, particularly in females. Over the past 50 years, only 11 cases have been reported involving anodontia of primary and permanent dentition in ED. The current report describes a case of a three-year-old female child diagnosed with hypohidrotic ED with anodontia, successfully treated by fabricating complete dentures with proper retention to restore function and aesthetics.

Repressor elements provide insights into tissue development and phenotypes in pigs.

Repressor elements significantly influence economically relevant phenotypes in pigs; however, their precise roles and characteristics are inadequately understood. In the present study, we employed H3K27me3 profiling, assay for transposase-accessible chromatin with highthroughput sequencing (ATAC-seq), and RNA sequencing (RNA-seq) data across six tissues derived from three embryonic layers to identify and map 2 034 super repressor elements (SREs) and 22 223 typical repressor elements (TREs) in the pig genome. Notably, many repressor elements were conserved across mesodermal and ectodermal tissues. SREs exhibited tight regulation of their target genes, affecting a limited number of genes within a specific genomic region with pronounced effects, while TREs exerted broader but weaker regulation over a wider range of target genes. Furthermore, in neuronal tissues, genes regulated by repressor elements started to be repressed during the differentiation of stem cells into progenitor cells. Notably, analysis showed that many repressor elements exhibited cooperative and additive effects on the modulation of KLF4 expression. This research provides the first comprehensive map of pig repressor elements, serving as an essential reference for future studies on repressor elements.

Smiles reimagined: The transformative power of overlay complete dentures in prosthodontic rehabilitation of ectodermal dysplasia patient

Ectodermal dysplasias (EDs) encompass a diverse set of conditions characterized by developmental abnormalities affecting ectodermal tissues. Hypohidrotic ectodermal dysplasia is a congenital syndrome marked by features such as sparse, delicate hair, skin and nail anomalies, reduced sweating capacity (attributed to a deficiency in sweat glands, resulting in sweat-related issues), and underdeveloped or missing teeth (partial or complete absence of primary and/or permanent dentition). In most instances, individuals with EDA can expect a typical lifespan and exhibit normal cognitive abilities. Nonetheless, the absence of sweat glands poses a risk of overheating, potentially leading to brain damage or even fatality in infancy if not promptly recognized. Therefore, early diagnosis holds significant importance. This case report presents a documented instance of ectodermal dysplasia, complemented by a comprehensive literature review.

Intracranial progression of the epidermoid cyst to a white epidermoid cyst in a pediatric patient: a case report

BackgroundEpidermoid cysts are rare benign lesions that originate from remnants of ectodermal epithelial tissue, particularly infrequent in the pediatric population. They exhibit characteristic imaging features, with occasional variations leading to the development of a “white” epidermoid cyst. This transformation results from the presence of protein and lipid material within the cyst, causing intrinsic hyperintensity in T1-weighted images, signal hypointensity in T2-weighted images, and a bright signal in diffusion-weighted imaging.Case presentationWe describe the case of a 5-year-old Latina pediatric patient initially diagnosed with a typical epidermoid cyst. After 13 years of follow-up, this typical epidermoid cyst underwent a transformation, becoming a “white” epidermoid cyst.ConclusionsEpidermoid cysts are rare intracranial lesions. The term “white epidermoid cyst” does not denote a variant; it represents a distinct transformation within an epidermoid cyst due to liquid and protein accumulation. This transformation should be considered in cases with specific imaging characteristics.

Progress In Stem Cells Based Replacement Therapy for Retinal Pigment Epithelium: In Vitro Differentiation to In Vivo Delivery.

Retinal pigment epithelium (RPE) is a critical cell monolayer forming the blood-retina-barrier (BRB) and a permeable bridge between the choriocapillaris and the retina. RPE is also crucial in maintaining photoreceptor function and for completing the visual cycle. Loss of the RPE is associated with the development of degenerative diseases like age-related macular degeneration (AMD). To treat diseases like AMD, pluripotent stem cell-derived RPE (pRPE) has been recently explored extensively as a regenerative module. pRPE like other ectodermal tissues requires specific lineage differentiation and long-term in vitro culturing for maturation. Therefore, understanding the differentiation process of RPE could be useful for stem cell based RPE derivation. Developing pRPE-based transplants and delivering them into the subretinal space is another aspect that has garnered interest in the last decade. In this review, we discuss the basic strategies currently employed for stem cell-based RPE derivation, their delivery, and recent clinical studies related to pRPE transplantation in patients. We have also discussed a few limitations with in vitro RPE culture and potential solutions to overcome such problems which can be helpful in developing functional RPE tissue.

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.

Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venezuela, we analyzed two XLHED cases exhibiting classical clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other. The current study adds to the growing repertoire of disease-causing EDA mutations with important implications for genetic screening in the affected families.