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Anhidrotic ectodermal dysplasia (AED), or Christ-Siemens-Touraine syndrome, is an X-linked recessive dermatosis. Rare in incidence, it affects 1 in 100,000 births, mostly boys. Through this observation, we detail the clinical signs that led us to suspect the diagnosis, how this pathology was confirmed, and the therapeutic management we carried out. We present a case of a 10-month-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, and tear glands. He also had complete anodontia and a dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. Although Christ-Siemens-Touraine syndrome is a rare condition, it is vital to recognize it early to improve care and prognosis for these patients, while mitigating the psychological impact of the condition on both children and parents.

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Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by a mutation in either the ectodysplasin (EDA), ectodysplasin A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result in impaired development of ectodermal-derived structures. The literature defines two types of ectodermal dysplasia, which are hypohidrotic and hidrotic. X-linked hypohidrotic ectodermal dysplasia (XLHED), also known as Christ-Siemens-Touraine syndrome, is the most common form and is a variant of ectodermal dysplasia characterized by a classical triad of hypo/adontia, hypohidrosis, and hypotrichosis; whereas, hidrotic type of ectodermal dysplasia, also known as Clouston syndrome, is characterized by a triad of onychodysplasia, hypotrichosis, and palmoplantar hyperkeratosis while sparing the sweat glands. Symptoms of XLHED can begin early in life between the ages of one month to 23 months. XLHED is more commonly seen in males due to the x-linked characteristics of the gene mutations. This disease can be diagnosed by physical exam alone, or in combination with molecular genetic testing. XLHED specifically has an estimated occurrence of one in every 20,000 newborns worldwide. Approximately 5,000 people in the United States have the disease.  In this case report, we present an adult patient diagnosed with XLHED. Our objective is to emphasize the significance of early diagnosis, advocate for a multidisciplinary management approach, and shed light on the potential of recombinant protein and targeted gene therapy for further research. By raising awareness of this condition, we aim to improve patient outcomes not only in newborns but also in adults who have already been diagnosed with XLHED.

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Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders - hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100) occurs in 1 out of 5000-10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia - XLHED) [2]. The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]. We report here the case of a patient with a novel inherited allelic variant in the EDA gene - NM_001399.5:c.337C>T (p.Gln113*) - in the heterozygous state. Targeted family member screening was conducted and other carriers of this EDA gene pathogenic variant were identified and phenotypically characterised. The patient subsequently underwent in vitro fertilisation with preimplantation genetic testing for monogenic diseases (PGT-M).

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Introduction: Ectodermal dysplasia (ED) comprises a broad group of genetic disorders characterized by alterations of the structures derived from the ectoderm, including those of the stomatognathic system. Case Report: The present article aims to report the prosthetic management of a patient with anhidrotic ectodermal dysplasia. A male patient diagnosed with ED who attended the dental consultation displaying oligodontia; underdeveloped alveolar ridges were observed. Results: The established treatment consisted of the adaptation of implant-supported fixed full-arch prosthesis designed through CAD-CAM technology for the lower jaw and of a removable partial prosthesis with muco-dental support for the upper jaw. The dental approach of patients with ED is based on a correct analysis of the facial characteristics and stomatological conditions of each subject. Conclusion: A multidisciplinary approach is mandatory due to the biological and functional complexity in biomechanical terms of these individuals.

Introducción: La displasia ectodérmica (DE) comprende un amplio grupo de trastornos genéticos caracterizados por alteraciones de las estructuras derivadas del ectodermo, incluidas las del sistema estomatognático. Reporte de Caso: El presente artículo tiene como objetivo informar del manejo protésico de un paciente con displasia ectodérmica anhidrótica. Paciente varón diagnosticado de DE acudió a consulta odontológica por oligodoncia; Se observaron crestas alveolares subdesarrolladas. Resultados: El tratamiento establecido consistió en la adaptación de una prótesis de arcada completa fija implantosoportada diseñada mediante tecnología CAD-CAM para el maxilar inferior y de una prótesis parcial removible con soporte muco-dental para el maxilar superior. El abordaje odontológico de los pacientes con DE se basa en un correcto análisis de las características faciales y condiciones estomatológicas de cada sujeto. Conclusión: Un enfoque multidisciplinario es obligatorio debido a la complejidad biológica y funcional en términos biomecánicos de estos individuos.

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Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), hypotrichosis, hypodontia, and other distinct facial features. Furthermore, ocular tissues of ectodermal origin may also be affected in this disease. The most common ocular manifestations of hypohidrotic ectodermal dysplasia are dry eye, madarosis, alterations in the meibomian glands, abnormalities in the nasolacrimal duct, and infantile glaucoma. Herein, author reports a case of hypohidrotic ectodermal dysplasia in a 12-year-old Indian boy with dry eye and lacrimal sac mucocele.

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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).

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Ectodermal dysplasia (ED) is a congenital disorder primarily affecting the ectodermal tissue, with infrequent dysfunction of mesodermally derived tissues. Clinically, there are two major forms seen, hypohidrotic/Christ-Siemens-Touraine syndrome and hidrotic/Clouston syndrome, depending on the number and function of sweat glands. A multidisciplinary treatment protocol is usually followed and necessitates collective efforts by medical and dental professionals. Dental intervention should be done as early as possible to ameliorate the patient's esthetics and enhance the emotional and psychological quotient in these patients. This case report aims to highlight a rare and interesting report of hypohidrotic ED in a young female patient with a possible autosomal recessive inheritance pattern.

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Ectodermal dysplasias (ED) are a group of rare genetic disorders characterized by congenital defects involving two or more ectodermal structures. Christ-Siemens-Touraine syndrome or hypohidrotic ectodermal dysplasia is the commonest form of ED. Hypohidrotic ectodermal dysplasia (HED) is an X-linked disorder characterized by excessively dry skin due to the absence of sweat glands (anhidrosis), sparse body hair especially on the scalp and eyebrows (hypotrichosis), brittle nails, absence of sebaceous glands (asteatosis) and malformed or absent teeth. Oral manifestations include oligodontia or complete anodontia, conical teeth, underdeveloped alveolar ridges, generalized spacing and delayed eruption of permanent teeth. This case report discusses a classical case of HED and the options for rehabilitation in a growing patient. A thorough knowledge about the clinical manifestations of ED will lead to proper diagnosis and appropriate treatment plan thereby leading to significant improvements in esthetics, phonetics and masticatory function in ED patients, which in turn leads to improved quality of life in these individuals. HOW TO CITE THIS ARTICLE: Abdulla AM, Almaliki AY, Shakeela NV, et al. Prosthodontic Management of a Pediatric Patient with Christ-Siemens-Touraine Syndrome: A Case Report. Int J Clin Pediatr Dent 2019;12(6):569-572.

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Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin condition presenting as hypohidrosis, hypodontia, and hypotrichosis, resulting in an important burden for affected families. The most common form of HED has an X-linked inheritance and female carriers have the option of prenatal or preimplantation genetic testing (PGT) to avoid transmission of the disease. A combined PGT for a mutation in EDA gene and aneuploidies in a Mexican carrier of X-linked HED is reported. Materials and Methods: Ovarian stimulation and assisted reproduction procedures were performed in a private academic medical center. PGT for a novel c.707-1G>A (rs886039466) mutation in EDA gene and chromosomal aneuploidies was performed by massive parallel and Sanger sequencing. Results: In the first PGT, the transfer of two blastocysts did not result in a pregnancy. An accumulative stimulation approach was decided to improve pregnancy chances for a second PGT procedure. Three ovarian stimulations were performed and 10 blastocysts coming from fresh and vitrified oocytes were genetically analyzed. A single embryo transfer produced a healthy non-carrier euploid girl. Discussion: PGT combining aneuploidy and mutation analyses is an alternative for female carriers of X-linked and other Mendelian disorders in Latin-American countries. In the era of genomic and personalized medicine, medically assisted reproduction techniques, such as PGT, are shifting from only infertility to preventive genetics.

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Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association.

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La displasia ectodérmica hipohidrótica (DEH) es uno de los 150 tipos de displasias ectodérmicas que existen. Es una afección genética poco frecuente caracterizada por hipohidrosis (disminución o ausencia de sudoración), hipodoncia (dientes faltantes y aquellos que crecen son generalmente deformes) e hipotricosis (cabello fino y escaso). La mayoría de los casos se relacionan con una herencia recesiva ligada al cromosoma X, afectándose por consiguiente, únicamente individuos varones. Sin embargo, también existen otras formas que se expresan de manera hereditaria autosómica dominante y recesiva.El presente artículo reporta el caso de una niña de 5 años de edad, con un cuadro compatible con una DEH, que presenta cabello delgado y escaso, alteraciones de número y forma dentaria, escasa sudoración y distrofia de las uñas. (AU)

The Ectodermal hypohidrotic dysplasia (EHD) is one of the 150 types of ectodermal dysplasia in the world. It is a rare genetic disorder characterized by: hypohidrosis (decrease or absence of sweating), hypodontia (missing teeth and those that grow are usually deformed) and hypotrichosis (fine and thinning hair).Most cases are associated with a recessive X -linked inheritance, affecting therefore only male individuals. However, there are other ways that are expressed by heritage autosomal dominant and recessive.This article reports the case of a girl of 5 years old, with symptoms compatible with EHD, having thin and sparse hair, abnormal tooth number and shape, little sweating and nail dystrophy. (AU)

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Displasia ectodérmica hipohidrótica (DEH) es una enfermedad genética rara de carácter autosómico recesivo ligado al cromosoma X; abarca un conjunto de desórdenes que envuelven tejidos derivados del ectodermo, siendo afectados el sexo masculino y portadores el sexo femenino. Presentan una tríada típica: hipohidrosis, oligodoncia e hipotricosis. Se reporta el caso clínico de un paciente con signos característicos de DEH: piel reseca, cabellos, cejas y pestañas escasos; arrugas e hiperpigmentación perioral y periorbitales; labios y puente nasal prominentes y disminución de secreción lagrimal. En el examen intraoral se observaron ausencias múltiples de piezas dentarias, con presentación de sólo ocho dientes superiores y dos inferiores, todos ellos con alteración de forma y presencia de diastemas. El reconocimiento y tratamiento odontológico precoz de los individuos portadores de DEH, referidos a alteraciones bucales, es de vital importancia no solamente por ofrecer un aspecto funcional y estético favorables sino también porque permite en corto plazo reducir alteraciones en el crecimiento facial.

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition. It is of recessive autosomic character and linked to the X chromosome, encompassing a heterogeneous group of disorders involving ectoderm-derived tissues. Males are affected by the disease and females play the role of carriers. This disease presents a typical triad: hypohidrosis, oligodontia and hypotrichosis. This article examines the clinical case of a patient who exhibited characteristic signs of HED: dry skin, scarce hair eyebrows and eyelashes, wrinkles and peri-oral and peri-orbital hyperpigmentation, prominent lips and nasal bridge and decreased lachrymal secretion. Intra-oral examination revealed multiple tooth absences, presence of only eight teeth in the upper jaw and two teeth in the lower jaw, all with shape alterations and presence of diastemata. Early recognition and dental treatment of HED carrier individuals referred to oral alterations is of the utmost importance, not only to achieve favorable esthetics and functionality but also to allow the decrease facial growth alterations in a short time.

RESUMEN

INTRODUCCIÓN: La displasia ectodérmica hipohidrótica es una enfermedad genética caracterizada por hipotricosis, hipohidrosis e hipodoncia, las cuales se vuelven evidentes durante la niñez. Su forma más común es aquella con herencia recesiva ligada al cromosoma X; si bien existe una forma autosómica recesiva y otra dominante. Es más común en varones, y entre sus manifestaciones se incluye cabello fino, dientes en forma de cono, piel hipoplásica e intolerancia al calor. El tratamiento incluye medidas de soporte para las distintas manifestaciones de la enfermedad, además del consejo genético para las familias. PRESENTACIÓN DEL CASO: Presentamos el caso de un niño de8 años, con antecedentes de cariotipo XYY, síndrome progeria no especificado y con diagnóstico de displasia ectodérmica hipohidrótica, además su madre presenta el diagnóstico de displasia ectodérmica. Al examen físico destaca pelo lanoso en cantidad normal, cejas y pestañas ralas, dientes escasos y terminados en punta. DISCUSIÓN: El diagnóstico de esta enfermedad es fundamentalmente clínico, en base a la tríada característica, pudiendo complementarse con estudio histológico, tomando biopsia de la frente o de las palmas de las manos y plantas de los pies. En nuestro caso éste fue realizado fundado sólo en la clínica, manteniéndose en tratamiento para la xerosis con buenos resultados.

INTRODUCTION: Hypohidrotic ectodermal dysplasia is a genetic disease characterized by hypotrichosis, hypohidrosis and hypodontia, which become evident during childhood. It’s most common presentation is recessive sex-linked X chromosome disorder, although there are recessive and dominant autosomal disorders. It is more common in men, and its manifestations include thinning hair, cone-shaped teeth, hypoplastic skin and heat intolerance. Treatment includes supportive measures for the different manifestations of the disease and genetic counseling for relatives. CASE REPORT: We report the case of an eight-year old male, with XYY karyotype, unspecified progeria syndrome and hypohidrotic ectodermal dysplasia diagnosis, furthermore his mother has ectodermal dysplasia diagnosis. Normal quantity woolly hair, sparse eyebrows and eyelashes, teeth few and pointed toes are the highlights of the physical examination. DISCUSSION: The diagnosis of this disease is mainly clinical, based on the characteristic triad, and can be supplemented by histological study, with biopsy of the forehead or the palms and soles. In our case this was done based only on the clinical manifestation, actually in treatment for xerosis with good results.

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La displasia ectodérmica hipohidrótica (DEH) es una enfermedad rara de etiología genética. La forma más frecuente es la de herencia recesiva relacionada al cromosomo X con sujetos de sexo masculino afectados y de sexo femenino portadores. Pueden ocurrir a través de mutaciones autosómicas, y en estas, las del gene EDA1 son responsables por la mayoría de los casos. Se caracteriza por la tríada: hipohidrosis, oligodoncia e hipotricosis. Presentamos dos casos de pacientes con DEH en los cuales se observaron signos característicos del síndrome: piel delicada; cabellos, cejas y pestañas escasos; arrugas periorbitales; hiperpigmentación perioral y periorbital; labios prominentes y además de eso el paciente del caso 2 presentaba depresión del puente nasal. Se constató aún disminución de la secreción salival y lagrimal y hipoplasia de maxila en los dos casos. Al examen oral estaban presentes en el caso 1 los caninos superiores derecho e izquierdo temporales y el canino inferior derecho temporal y en el caso 2 los caninos superiores e inferiores (derechos e izquierdos) temporales y dos incisivos superiores (uno derecho y otro izquierdo) permanentes con morfología alterada, siendo todos los elementos dentarios íntegros. El tratamiento odontológico precoz de los portadores de DEH, principalmente en la presencia de oligodoncia, como la que se observa en los casos aquí reportados, es importante no solamente para ofrecer mejor calidad de vida para estos pacientes en corto plazo, sino también en el intento de mitigar las alteraciones en el crecimiento facial a que estos pacientes están sometidos.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease of genetic etiology. The most frequent form is of recessive linked to X-chromosome inheritance with affected male and female carriers. It can occur through autosomal mutations, of the gene EDA1 gene being responsible for the majority of the cases. It is characterized by the triad: hypohidrosis, oligodontia and hypotrichosis. We present two cases of patients with HED in which we observed characteristic signs of this syndrome: delicate skin, sparce hair, eyebrows and eyelashes, periorbital wrinkles, perioral and periorbital hyperpigmentation, prominent lips, in addition the patient in case 2 also present the depressed nasal bridge. We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. At the oral examination in case 1 the upper right and left deciduous canines and lower right deciduous canine were present, and in case 2 the upper and lower (right and left) deciduous canines and two upper (one right and other left) permanent incisors were present with altered morphology, all of these dental elements were healthy. The early dental treatment of patients with HED, especially in the presence of oligodontia, as observed in our cases, is important not only to provide a better quality of life for these patients in the short term, but also an attempt to minimize the changes in facial growth to which these patients are subject.

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A síndrome de Christ-Siemens-Touraine (displasia ectodérmica hipoidrótica) é uma síndrome rara, caracterizada pela tríade de sudorese reduzida ou ausente, hipotricose e dentição defeituosa. Bossas frontais proeminentes, nariz em sela, lábio inferior espesso e queixo pontudo fazem com que os pacientes tenham uma fácies característica e semelhante. A síndrome completa ocorre em homens, visto tratar-se de herança recessiva ligada ao X.

Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.

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Ectodermal dysplasia exhibits a classic triad of hypohidrosis, hypotrichosis, and hypodontia. Self- mutilation could be due to organic or functional causes. The occurrence of selfmutilation with functional cause represents a diagnostic challenge to practitioners. In most of the instances dentists are the first to recognize patient with ectodermal dysplasia as they report primarily with a complaint of missing teeth. The most common type is hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A thorough knowledge of this disease with multidisciplinary approach aids in successful outcome of the treatment. This is an unusual case report of Christ-Siemens-Touraine syndrome with selfmutilation.