The typical presentation of a person born with ectodermal dysplasia may involve many of the following characteristics:

• Extremely fine and fragile hair, often light in color, that is dispersed across the head. Alopecia is a common feature and may be accompanied by inflammation. In the same manner, facial hair (eg. eyebrows) are also scanty or absent.
• Anomalies of the teeth are also typical: teeth have irregular shapes and are often pointed towards the ends. Enamel is dysplastic and many patients fail to grow the normal amount of teeth.
• Onychodystrophia is also a frequent manifestation. Nails may be irregular in shape, too thick or even absent. The tissues adjacent to the nails are often susceptible to infection.
• Abnormally developed or absent major sweat glands. This feature can threaten the lives of newborns, since failure to sweat leads to an increased body temperature, fever and neurological complications. Depending on whether the sweat glands are reduced in numbers, underdeveloped or completely absent, an individual may be able to produce reduced amounts of sweat (hypohidrosis) or no sweat (anhidrosis).
• Skin hamartomas or skin cancer of various subtypes
• Acanthosis nigricans
• Systemic involvement

Hypohidrotic ectodermal dysplasia is the most common type of ectodermal dysplasia. Apart from the aforementioned typical characteristics concerning the hair, teeth and nails, these individuals do not produce the adequate amount of sweat to achieve the necessary detoxification and temperature regulation. other than that, they exhibit a characteristic appearance with hollowed cheeks, thick lips, and creased skin around the eyes. On the other hand, hidrotic ectodermal dysplasia is one of the syndromes inherited in an autosomal dominant manner, evincing a distinct predilection for people of French-Canadian descent. [10] [11] [12]. Patients exhibit no irregularities in the production of sweat, but may have conjoined fingers or more than 5 fingers in each hand.

• Nail Abnormality

  The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. [ncbi.nlm.nih.gov]

  Ectodermal dysplasias is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. There are many different types of ectodermal dysplasias. [medlineplus.gov]

  Nails: Most people with Ectodermal Dysplasia do not have nail abnormalities, although the nails are frequently dry and rough. [dentalimplants-usa.com]

• Recurrent Infection

  CONCLUSION: AD-EDA-ID patients can present with mild ectodermal dysplasia and non-infectious inflammation, rather than with recurrent infections. Also, hematopoietic stem cell transplantation for AD-EDA-ID is still a clinical challenge. [ncbi.nlm.nih.gov]

  infections missing ears and hearing difficulties People with ectodermal dysplasia have normal intelligence, life expectancy and can lead a full and productive lives. [radiopaedia.org]

  Other key aspects of the immune system may also be impaired, leading to recurrent infections. [ghr.nlm.nih.gov]

  For example, patients with ectodermal dysplasia with immunodeficiency are at risk for significant morbidity and mortality related to recurrent infections and failure to thrive. [emedicine.medscape.com]

• Fever of Unknown Origin

  The most common symptoms of XLHED are the following: Significant decrease in sweating or hypohidrosis that can lead to heat intolerance, hyperthermia, or unexplained fevers/fevers of unknown origin in infancy that can rarely lead to febrile seizures Tooth [clinicaladvisor.com]

• Saddle Nose

  Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. [ncbi.nlm.nih.gov]

  Clinical features • It is characterised by hypotrichosis, hypohydrosis and anhidrosis with saddle nose appearance • the hair and scalp and eyebrows tend to be fine, scanty and blond • supraorbital and frontal bosses are pronounced • there is heat intolerance [slideshare.net]

  Other clinical features include facial dysmorphism (including saddle nose), occasional mental retardation, increased susceptibility to infection, and raspy voice. Hypohidrotic ectodermal dysplasia occurs in approximately 1 in 17,000 newborns. [hihg.med.miami.edu]

• Hoarseness

  A hoarse, raspy voice is common. Abnormal ear wax production may be noticed in some people with Ectodermal Dysplasia. The most frequent problem is accumulation of wax in the ear canal. [dentalimplants-usa.com]

  Decreased secretions can also lead to xerostomia, xerophthalmia, thick nasal secretions, excessive cerumen, hoarse voice, respiratory infections, and dysphagia. [clinicaladvisor.com]

   Diminished production of tear film from the lacrimal glands cause dry eyes, photophobia & corneal damage  affected males have abnormalities of the nipples including absent, simple or accessory nipples  feeding problems in infancy  xerostomia,hoarse [slideshare.net]

• Nasal Discharge

  The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. [ncbi.nlm.nih.gov]

  Foul smelling nasal discharge from chronic nasal infections. Lack of breast development. What is the treatment for ectodermal dysplasia ? There is no specific treatment for ectodermal dysplasia. [dermnetnz.org]

   Eczema is common and is prominent in flexural areas  Small milia like papules may be found on the face  Diminished or absent salivary glands & mucous glands of the nose, mouth and ears cause  nasal obstruction by thick, fetid nasal discharge & [slideshare.net]

• Pneumonia

  He subsequently developed gram-negative sepsis and multiple opportunistic infections including high-level cytomegalovirus viremia and Pneumocystis jiroveci pneumonia. [ncbi.nlm.nih.gov]

  CASE REPORT We previously described a 4 year old white boy with clinical features of X linked anhidrotic ectodermal dysplasia who suffered from recurrent life threatening infections caused by Streptococcus pneumoniae. [adc.bmj.com]

  Children with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract. [ghr.nlm.nih.gov]

• Low Set Ears

  In addition, he had atopic eczema, frontal bossing, sunken cheeks and low set ears. These clinical features were supportive in diagnosing hypohidrotic ED. [ncbi.nlm.nih.gov]

  He had the typical face of a ectodermal dysplasia patient with features like: frontal bossing, periorbital pigmentation, depressed nasalbridge, protuberant lips, low-set ears, and scanty scalp hair. [2], [3] The nails were not very brittle [Figure 1], [jisppd.com]

• Lacrimation

  Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case. [ncbi.nlm.nih.gov]

  In addition, some individuals with HED are unable to produce tears due to underdevelopment of the glands that secrete tears (hypoplastic lacrimal glands), hypoplasia of the ducts through which the tears pass (lacrimal ducts), and/or abnormal narrowing [rarediseases.org]

  We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. [pesquisa.bvsalud.org]

  Subsequently, Walker and Clodius described three pedigrees with complete unilateral or bilateral clefts of the primary and secondary palate associated with lobster-claw hands and feet and malfunction of the lacrimal system.[ 3 ] In 1970, Rudiger and associates [parjournal.net]

• Blepharitis

  Most of the patients suffer from ''dry eye'' problems (e.g. chronic conjunctivitis, blepharitis), nasopharyngeal dryness and asthma-like symptoms. [orpha.net]

• Corneal Opacity

  Eye (ocular) abnormalities may be present, including loss of transparency of the lens of the eyes (cataracts) and/or clouding of the portion of the eyes through which light passes (corneal opacities). [rarediseases.org]

• Anhidrosis

  Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. [ncbi.nlm.nih.gov]

  Babies with anhidrosis/hypohidrosis should be advised air conditioning at home, school, and work, frequent consumption of cool liquids, and wear cool clothing to maintain hydration and temperature. [digitmedicine.com]

  […] on an 11-year-old female patient with anhidrotic ectodermal dysplasia (AED) showing the following characteristics: (1) reduced number of hair follicles and incomplete formation of sweat glands; (2) disturbed hair growth with shortening of anagen and anhidrosis [link.springer.com]

• Dry Skin

  Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. [ncbi.nlm.nih.gov]

  Definition An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth [uniprot.org]

  Diagnosis • Absence of teeth with dry skin is valuable aid in the diagnosis of ectodermal dysplasia • Reduction in the height of alveolar bone 7. [slideshare.net]

• Dry Hair

  A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers [ncbi.nlm.nih.gov]

• Frontal Bossing

  In addition, he had atopic eczema, frontal bossing, sunken cheeks and low set ears. These clinical features were supportive in diagnosing hypohidrotic ED. [ncbi.nlm.nih.gov]

  Clinical features • It is characterised by hypotrichosis, hypohydrosis and anhidrosis with saddle nose appearance • the hair and scalp and eyebrows tend to be fine, scanty and blond • supraorbital and frontal bosses are pronounced • there is heat intolerance [slideshare.net]

  People with ED often have certain cranial-facial features which can be distinctive: frontal bossing is common, longer or more pronounced chins are frequent, broader noses are also very common. [en.wikipedia.org]

• Broad Nasal Bridge

  Hands of son and father showing brittle,thin & dystrophic nails 77.  Face : Frontal bossing ,maxillary hyperplasia  narrow nose, broad nasal bridge & small mouth  Fusion of EYE LIDS most distinc feature  Hypodontia or Conical Teeth 78.  VSD  Syndactylyl [slideshare.net]

• Febrile Seizures

  Health problems from this condition may include: Brain damage caused by increased body temperature Seizures caused by high fever ( febrile seizures ) Call for an appointment with your health care provider if your child shows symptoms of this disorder. [medlineplus.gov]

  The inability to perspire can cause hyperthermia that may lead to febrile seizures and neurologic damage. [clinicaladvisor.com]

In families with a medical history of ectodermal dysplasia, genetic testing may help to achieve a diagnosis of the condition before birth. Should the specific mutation be known, direct analysis can help to illustrate whether the child is affected or not. Chorionic villus sampling can also be of use, because a linkage analysis can be applied to determine the existence of an ectodermal dysplasia.

After birth, a skin biopsy can be performed in children whose appearance or periodic fever raises suspicion for the condition. The absence of eccrine glands or the presence of hypoplastic glands usually points to the direction of ectodermal dysplasia. Pore sweat counts can also be performed. Plain radiographs of the limbs can illustrate skeletal deformities and an orthopantography can examine the teeth, in order to detect possible anomalies. If a patient is affected by an ectodermal dysplasia syndrome with immunodeficiency, they have to be monitored closely for a potentially reduced concentration of immunoglobulins, a defective lymphocyte proliferation and T-cell immunity.

Patients with ectodermal dysplasia receive supportive treatment, since the conditions cannot be cured.

More specifically, patients can benefit from an assessment by an orthodontist or dentist specializing in prosthetics, since the latter can be used to restore a normal appearance of their teeth. Children should follow a responsible dental hygiene plan [13] [14]. Patients who display inability to produce the adequate amount of sweat due to hypoplasia of the eccrine glands should be encouraged to use air conditioning electronics, wear clothes that allow for the body to be cooled and consume liquids in order to compensate for the failure of the natural homeostatic mechanism. Alopecia can be treated with the local administration of minoxidil products and the skin should always by maintained moist, with the use of creams and emollients [15]. Antibiotics, either per os or applied locally can also help to prevent infection in people with dermatitis; frequent infections may also be experienced by patients who have a compromised immune system, in which case appropriate follow-up should be adhered to.

Surgical intervention may be needed in cases of a cleft palate or lip, syndactyly or polydactyly. In general, ectodermal dysplasia is a group of conditions that requires the cooperation of an extensive and multi-disciplinary team of doctors in order for the appropriate management of the condition to be possible.

Individuals born with ectodermal dysplasia have unaffected intelligence and are usually subject to no significant morbidity or mortality. More severe cases of hypohidrosis need to be diagnosed at a very young age and managed appropriately, so as for the child to grow normally. The type of ectodermal dysplasia that is followed by the poorest prognosis is the one accompanied by immunodeficiency: mortality/morbidity are attributed to the defective immune system.

Until now, approximately 200 conditions have been classified, which all fall under the category of ectodermal dysplasia syndromes, since they involve abnormalities of the products of the embryonic ectoderm. Nearly 8 out of 10 patients suffer from the Christ-Siemens-Touraine syndrome, a condition otherwise referred to as X-linked recessive hypohidrotic ectodermal dysplasia. 1 in 1,000,000 people are believed to be affected by it and the precise genetic loci of the abnormal gene are Xq12-q13.1 [1].

Ectodermal dysplasia conditions were first categorized in 1982 [2], with the next attempts being no sooner than 1994 [3] [4]. The initial categorization systems separated and identified them depending on the pathologically developed structures, such as hair, teeth, nail and eccrine glands. More recent approaches utilized the newly-discovered genetic substrate of these conditions and the most popular categorization is, until now, the following:

• Related to the existence of cell-to-cell communication, adhesion, development, other [5]
• Related to the existence of anomalies of developmental regulation or mesenchymal interaction and irregularities of cytoskeleton stability and cellular maintenance [6]

Some of the most frequently observed ectodermal dysplasia syndromes are the following:

• Ectodermal dysplasia, ectrodactyly and clefting palate syndrome (EEC) [7]
• Rapp-Hodgkin syndrome
• Hay-Wells syndrome involves ankyloblepharon, ectodermal dysplasia and a cleft palate

Ectodermal dysplasia is a condition which is congenital. Depending on the particular structures that are affected, it may remain undiagnosed until a child reaches the age of infancy, when these characteristics can be recognized as defective. In general, 1 out of 100,000 individuals in the United States is believed to be affected by the most common type of ectodermal dysplasia (hypohydrotic), whereas at an international level, the frequency seems augmented, with 70 out of 100,000 individuals suffering from it.

Ectodermal dysplasia syndromes are inherited in various ways. The most common hypohydrotic type is passed down from one generation to the other via the X-linked recessive pathway, which means that female patients are mere carriers, and affected males experience the full effect of the condition. Other X-linked ectodermal dysplasias include:

• Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID)
• Osteopetrosis, lymphedema, EDA, and immunodeficiency (OL-EDA-ID)

The remaining syndromes are not inherited via the X-linked pathway and therefore do not affect male and female patients in different ratios.

The severity of the condition depends on whether the mucous and major sweat glands are dysplastic. Abnormal development of these glands may lead to frequent, periodic episodes of fever, which can induce epileptic phenomena and further neurological damage. Children with ectodermal dysplasia typically exhibit hindered growth [8] and often display dermatitis, which leads to loss of hair due to frequent infections.

The ectoderm is one of the three layers of cells that develop during embryogenesis and from which all other structures of a fully developed embryo are formed. The ectoderm is the exterior layer, followed by the mesoderm and endoderm. The structures that are a result of the ectodermal differentiation are the nervous system, the teeth, the skin and, subsequently, the skin's appendages as well. Ectodermal dysplasia occurs due to a failure of the embryonic ectoderm to differentiate normally, thus producing defective and abnormal structures.

Nearly 200 conditions induced by the faulty development of the ectoderm have been categorized and are all caused by genetic mutations. Other significant factors that have been found to participate in the pathogenesis of ectodermal dysplasia are the tumor necrosis factor (TNF)-like/TNV receptor signaling pathway, ectodysplasin (EDA), the EDR receptor (EDAR), the EDAR-associated death domain (EDARADD), the NF-kB signally pathway, which involves the NF-kB essential modulator and the transcription factor p63 [9]

The faulty regulation of the ectodermal development may, in some occasions, be followed by abnormalities of structures originating from the mesoderm or the endoderm.

Ectodermal dysplasia is a group of inherited conditions and can therefore not be prevented. In families with a medical history of one of the conditions, direct genetic testing can be performed to determine the existence of this disease in an unborn child. A skin biopsy is also possible prenatally for the same reasons.

Ectodermal dysplasia is not a single condition, but refers to a group of inherited diseases whose common feature is the abnormal development of structures originating from the embryonic ectoderm. The defects affect the skin and any organ or structure attached to it, such as the hair follicles and, respectively, the hair, teeth, eccrine glands and nails. In order for the condition to be defined as ectodermal dysplasia, 2 or more structures must be involved and, depending on the particular clinical characteristics of each disease, nearly 200 congenital types have been described, which lead to anomalies of the ectodermal products. Except for the embryonic ectoderm, structures derived from the mesoderm or endoderm may be also be affected in some cases (ectodermal dysplasia syndromes). Patients displaying solely abnormalities related to the ectoderm are affected by pure ectodermal dysplasias.

The ectoderm is one of the three first cell layers to form in an embryo, and the most external layer of those three. As the embryo grows, various structures originate from this primitive cellular layer, such as the teeth, the skin, hair and sweat glands. Ectodermal dysplasia is a group of conditions with various characteristics which are all a result of a faulty development of the ectoderm. Thus, the appearance of the teeth, hair and nails are affected and the sweat glands are often sparse or absent.

Individuals affected by one of these conditions have fine, lightly-colored hair and frequently experience loss of their hair. Nails are distorted in appearance and the teeth are also irregularly shaped and may be less in number. People who have less sweat glands or no glands at all may experience frequent fevers: this happens due to the fact that the sweat produced by the body helps to keep the body's temperature from rising excessively.

the ectodermal dysplasia syndromes that that scientific community is familiar with until now are approximately 200. The conditions cannot be cured, but can be treated in order to manage the symptoms and offer the patients a better quality of life. In general, people affected by these conditions do not face other health problems, except for some rare cases.

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