A case of anhidrotic ectodermal dysplasia presenting with pyrexia, atopic eczema, and food allergy

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. He presented with a history of dry skin, eczema, and food allergy to egg. On clinical examination, his body temperature was 38.8°C, with dry skin and eczema almost all over the body, sparse eyebrows, and scalp hair. Laboratory investigations and physical examination did not show any evidence of infection. Radioallergosorbent test was positive to egg yolk, egg white, ovomucoid, milk, house dust, and house dust mite. As the child did not sweat despite the high fever, we performed the sweat test which revealed a total lack of sweat glands. Genetic examination revealed a mutation of the EDA gene and he was diagnosed as AED. His pyrexia improved upon cooling with ice and fan. His mother had lost 8 teeth and her sweat test demonstrated low sweating, suggestive of her being a carrier of AED. Atopy and immune deficiencies have been shown to have a higher prevalence in patients with AED. Disruption of the skin barrier in patients with AED make them more prone to allergic diseases such as atopic eczema, bronchial asthma, allergic rhinitis and food allergy. Careful assessment of the familial history is essential to differentiate AED when examining patients with pyrexia of unknown origin and comorbid allergic diseases.

Manejo odontológico de pacientes con el síndrome de Christ-Siemens-Touraine. Reporte de un caso / Dental handling of patients with Christ-Siemens-Touraine syndrome. Case report

Resumen La displasia ectodérmica (DE) comprende un grupo de trastornos hereditarios en los que dos o más estructuras derivadas del ectodermo se encuentran afectadas. Los pacientes con este trastorno presentan hipoplasia o aplasia de estructuras como la piel, el cabello, uñas, dientes, glándulas sudoríparas y otras estructuras. El manejo odontológico es fundamental para mejorar la calidad de vida del individuo. Se reporta el caso de un paciente masculino con síndrome Christ-Siemens-Touraine, quien asistió a consulta por anodoncia de órganos dentarios en maxilar superior e inferior, se realizó un abordaje odontológico que involucró periodoncia, rehabilitación oral e implantología y acompañamiento social, dirigido a restablecer funcionalidad y estética del sistema estomatognático. Con el tratamiento realizado se obtuvo mejoría absoluta en el proceso de masticación y una sonrisa estética satisfactoria para el paciente y su representante legal.

Abstract Ectodermal dysplasia (ED) encompasses a group of hereditary disorders in which two or more ectoderm-derived structures are affected. Patients afflicted with this disorder exhibit hypoplasia or aplasia of different structures such as skin, hair, nails, teeth, and sweat glands among others. Dental treatment is of the utmost importance in order to improve the subject's quality of life. The case here reported depicts a male patient affected with Christ-Siemens- Touraine syndrome, who sought treatment due to tooth anodontia in upper and lower jaws. A dental approach was conducted involving periodontal treatment, oral rehabilitation and implantology, a social component was also furthered, directed to re-establish function and esthetics of the stomatognatic system. Performed treatment achieved absolute improvement in the masticatory process and esthetic smile which was satisfactory for the patient and his legal representative.

Recurrent fever, bulging fontanelle and elevated white blood cell / 中华实用儿科临床杂志

This patient presented with fever,seizure and bulging fontanelle when he was 6-month-old.According to the investigations,white blood cell (WBC),erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) increased significantly,and Streptococcus Pneumonia grew in both blood and cerebrospinal fluid (CSF).He responded to standard antibiotic treatment poorly even it lasted long enough.At the same time,the inflammation seemed to be over-activated,the WBC level was still elevated,high fever continued.Thus they thought of primary immunodeficiency and sent blood sample for gene panel testing (Sanger sequencing) but got negative result.At last,they added steroid together with anti-tuberculosis drug therapy,his temperature as well as the intracranial pressure became better ever since.At the age of 1 year and 1 month,he got another Streptococcus Pneumonia meningitis,while he was still on anti-tuberculosis drug therapy and tapering off steroid.At this time,he presented with coarse hair,hypohidrosis and delayed eruption of teeth,which strongly indicated Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID).NEMO is the most common gene responsible for EDA-ID and locates on X chromosome.It has a pseudogene named IKBKGP which locates downstream of NEMO.IKBKGP and NEMO share 3-10 exons with the homology of 99.8％,which makes it difficult to find out most real mutations within NEMO with Sanger sequencing.Then they performed PCR with the primer starting upstream of the shared exons.Finally,they found out the pathogenic mutation [c.505G ＞ C(p.A169P)] of NEMO,which has been reported.This finding led us to make the right diagnosis as well as the proper treatment and the prognosis for this patient.

Papel do fator nuclear kappa B (NF-κB) na expressâo do gene NCF1 em leucócitos de indivíduos normais, e pacientes com doença granulomatosa crônica, displasia ectodérmica anidrótica, ou com defeitos no eixo IL-12/23-IFN-γ / Role of nuclear factor kappa B (NF-κB) on NCF1 gene expression in leukocytes from normal individuals, and patients with chronic granulomatous disease, anhidrotic ectodermal dysplasia, or with defects in the IL-12/23/IFN-γ axis

Objetivo: Analisamos a relevância do NF-κB sobre a expressão do gene NCF1 em células mielóides U937 selvagens (U937) ou transfectadas com um repressor do NF-κB (IκBα-S32A/S36A - U937 IκBα-S32A/S36A) ou transfectadas com o vetor vazio (U937 pCMV3) e em células B imortalizadas pelo vírus Epstein-Barr (EBV) de pacientes com displasia ectodérmica anidrótica com imunodeficiência (EDA-ID) ou com doença granulomatosa crônica (CGD) devido a mutações no gene NCF1, ou de pacientes portadores de defeitos do eixo IL-12/ 23-IFN-γ. Métodos: O RNA celular total foi isolado pelo método TRI-zol®. Os cDNAs foram produzidos utilizando-se o SuperScript™ III e amplificados por Real-time PCR (SYBR® Green Master Mix). Resultados: Células U937 IKBα-S32A/S36A mostraram significante decréscimo na expressão do gene NCF1 comparadas com as células U937. A expressão do gene NCF1 em células EDA-ID S32I foi significativamente menor que em controles saudáveis, assim como em células EDA-ID NEMO/IKKγ X420W na mesma comparação. Estes resultados foram similares aos encontrados em células de pacientes CGD devido à mutação autossômica recessiva no gene NCF1 quando comparados com o controle normal. Defeitos nos receptores IFNGR1 e IFNGR2 levam à diminuição da expressão do gene NCF1 (p<0,05, Mann Whitney). Conclusões: Estes resultados mostram que o NF-κB é necessário para a expressão do gene NCF1, que possivelmente as subunidades p50 e/ou p65 do NF-κB ligam-se funcionalmente à região "upstream" do gene NCF1 e que defeitos no eixo IL-12/ 23-IFN-γ influenciam a expressão do gene NCF1.

Objective: We analyzed the relevance of NF-κB on NCF1 gene expression in regular myeloid U937 cells (U937), or transfected with a NF-κB repressor (IκBo-S32A/S36A - U937 IκBo-S32A/S36A), or transfected with the empty vector (U937 pCMV3), and in B cells immortalized by Epstein-Barr vírus (EBV) from patients with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), or with chronic granulomatous desease (CGD) due to mutations in NCF1 gene, or from patients with IL-12/23-IFN-γ axis defects. Methods: Total RNA was isolated by the TRIzol® method. The cDNAs were produced by Super Script™ III and amplified by Real-time PCR (SYBR Green Master Mix). Results: U937 IκBo-S32A/S36A cells showed significant decrease in the NCF1 gene expression compared with the U937 cells. The NCF1 gene expression was significantly lower in EDA-ID S32I cells compared to healthy controls as well as in EDA-ID NEMO/IKKy X420W cells. These results were similar to those obtained in the CGD patient cells due recessive mutations in the NCF1 gene compared to healthy controls. Cells form patients with defects in IFNGR1 e IFNGR2 receptors also presented decreased NCF1 gene expression (p<0,05, Mann Whitney). Conclusion: These results show that the NF-κB is necessary for NCF1 expression, possibly the p50 and/or p65 NF-κB subunits bind functionally to the upstream region of the NCF1 gene and that IL-12/23-IFN-γ axis defects also influence NCF1 gene expression.

A Case of Ocular Manifestation of Anhidrotic Ectodermal Dysplasia

PURPOSE: This clinical report describes the characteristics and ophthalmic treatment of a patient with anhidrotic ectodermal dysplasia showing bilateral upper eyelid entropion, conjunctival mass and dry eye syndrome. METHODS: A 12-year-old boy presented to our clinic complaining of a white mass on the lower tarsal conjunctiva, foreign body sensation, and an itching in his right eye of one-year duration. He had developmental defects in his hair, teeth, nails and sweat glands. He had dry skin, a flat upper-lip, heat intolerance, a saddle-backed nose, and hypohidrosis. Ophthalmic examination showed blepharitis, a conjunctival mass, and bilateral upper eyelid entropion. RESULTS: Upper eyelid entropion surgery was performed. An excisional biopsy of the conjunctival mass showed nonspecific acute and chronic inflammation. CONCLUSIONS: We concluded that the conjunctival mass developed as a result of chronic inflammation caused by chronic conjunctivitis and dry eye syndrome. Regular lid-hygiene with swab and lubrication is useful to minimize recurrent ocular inflammation in anhidrotic ectodermal dysplasia.

A Case of Anhidrotic Ectodermal Dysplasia with Atrophic Rhinitis / 대한이비인후과학회지

Anhidrotic ectodermal dysplasia is a rare genetic disorder characterized by absence or diminished numbers of structures derived from the ectoderm, and it is reported to be inherited as an x-linked recessive trait. It is recognized clinically by anhidrosis, hypotrichosis, anodontia or reduced numbers of teeth with deformed shape and characteristic facial features. In addition, otolaryngological manifestations include atrophic rhinitis, sensorineural hearing loss, and conductive hearing loss and satyr ear, among others. Early diagnosis of anhidrotic ectodermal dysplasia can prevent fatal hyperpyrexia and appropriate genetic counseling can be followed to make a reasonable future plans for the pediatric patient. A 2-month-old infant was referred with symptoms of intermittent nasal obstruction and crust formation in both nasal cavities. The nasal endoscope demonstrated atrophic changes of nasal mucosa and radiologic study showed an unerupted conical shaped tooth. The diagnosis of anhidrotic ectodermal dysplasia was confirmed with the finger impression test that revealed deficiency of sweat pores. We report a case of anhidrotic ectodermal dysplasia with a review of the literature.

A Case of Anhidrotic Ectodermal Dysplasia with Atopic Dermatitis / 대한피부과학회지

Anhidrotic ectodermal dysplasia(AED) is a rare hereditary disorder characterized by hypohidrosis or anhidrosis, hypotrichosis, dental hypoplasia and characteristic facies. Additional less consistent symptoms include nail dystrophy, hyperkeratosis of the palms and soles, cleft palate, hyperplasia of facial sebaceous glands, susceptibility to atopic dermatitis, dryness of mouth and eyes, and hypoplasia of mucous and mammary glands. In general, the inheritance of this syndrome is determined by an X-linked recessive gene, and several hundred cases, of which over 90% are male, have been reported in many differnt races. We experienced a case of AED associated with atopic dermatis.

Two Cases of Anhidrotic Ectodermal Dysplasia with Atopic Dermatitis in Siblings

Anhidrotic ectodermal dysplasia (AED) is characterized by a well-known tetrad of anhidrosis, hypotrichosis, hypodontia, and typical facies with a wide constellation of developmental defects of tissues derived from the ectoderm. Most of these patients have normal or borderline normal intelligence, but some present with mental retardation. A 15-year-old boy and his younger brother were evaluated for dry skin and intolerance to heat since their births. Their parents and other brother were normal. Both of them had atopic dermatitis. A skin biopsy was done on their left axilla, which showed a few immature eccrine glands in the dermis. We report herein two rare cases of AED in siblings with atopic dermatitis.

A Case of anhidrotic Ectodermal Dysplasia / 대한피부과학회지

Anhidrotic ectodermal dysplasia is inherited as an X linked recessive trait. This disor der is characterized by hypotrichosis, hypodontia and hypohidrosis. The diagnosis is often delayed until the first or second year of life, after repeated episodes of potentially damaging high fever. In the newborn period, the diagnosis is more difficult, but early diagnosis is of importance in ensuring that the appropriate enivironment and medical measures be taken to avoid uncontrolled hyperthermia. We have experienced a case of anhidrotic ectoclermal dysplasia in an8-day-old male patient who showed charecteristic features including hypotrichosis, peeling or scaling of the skin, recurrent fever and a characteristic face. A skin biopsy from the right palm revealed no sweat gland strutures. A brief rview with related literature is also presented.

Herditary Anhidrotic Ectodermal Dysplasia in Twins

Hereditary anhidrotic ectodermal Dysplasia is a congenital disease displaying characteristics of anhidrosis, hypotrichosis and dental defect which are caused by developmental anomaly of ectodermal epidermis and its appendages. We experienced two cases of hereditary anhidrotic ectodermal dysplasia in two-year and four-month old twin brothers. These patients suffered from intermittent high fever early in life which brought them to our clinical attention. However the diagnosis of anhidrotic ectodermal dysplasia was not suspected by means physicians who cared the patients previously. The diagnosis was made on the basis of clinical features, and confirmed by starch iodine sweat test and skin biopsy on the palm and axilla. We report the two cases in a twin brothers with brief review of related literatures.