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Ectodermal Dysplasia is a rare group of inherited disorders. The disorders arise from disturbances in one or more ectodermal structures and their accessory appendages. The absence of, or deficient function of, at least two derivatives of the ectoderm constitutes a form of ED. Each combination of defects represents another type of ED and has a specific name. At least 150 different forms of Ed have been identified.

Individuals affected by ED have at least two or more of the following manifestations:

1. Absent or malfunctioning sweat glands. The patient may suffer from dry skin, hyperthermia, and unexplained high fever as a result of the deficiency of sweat glands.
2. Dental anomalies include missing or underdeveloped teeth
3. Varying degrees of Alopecia resulting from defective hair follicles.
4. Malformed or missing fingers and toes.
5. Malformed fingernails and toenails, to varying degrees.

In addition, patients may have poorly functioning mucous membranes, cleft lip and palate, deficient saliva, hearing or visual defects, inadequate eye fluids and tears.

The words hypohidrotic or hidrotic sometimes appear before the condition "Ectodermal Dysplasia." The uses of these words clarify if the person with ED has the ability to sweat. In both the hypohidrotic and hidrotic forms of ED the sweat glands are involved. In hypohidrotic the sweat glands are not present, or don't function. In the hidrotic form of ED, the sweat glands function improperly. Some sweat glands may be present in one area, and missing in another. The absent or malfunctioning sweat glands can lead to serious complications because the body looses its ability to cool down. The insufficient or absent secretion of sweat is also particularly discomforting as it leads to extreme heat intolerance.

1. Eccrine Glands: Sweat Glands/ Sebaceous Glands(skin): Decreased or absent sweating. Often, the first clue that the sweat glands are absent or not functioning properly is an elevated temperature. This is the result of sweat glands that function at various levels. Restricted activity due to heat intolerance is noted.
   
   Dry skin and other chronic skin problems are noted due to the lack of oil and sweat glands. There is often overgrown dry skin on the palms of the hands and soles of the feet.
   
   The skin is dark colored and wrinkled over the joints, primarily over the elbows and knees.
   
   Wrinkled and dark circle around the eyes is also present.

 

2. Teeth: The main dental manifestation is missing teeth, varying in severity. Often, the teeth are missing altogether or reduced in number. There are also other dental manifestations that may be present. These dental abnormalities are characterized by a variety of developmental problems. These include underdeveloped teeth and various enamel defects. The teeth that are present often are discolored, small in height, peg shaped, pointed, widely spaced, tapered, or malformed. In persons with some types of ED the enamel covering, that is the outer layer of teeth, is defective. Without enamel to protect the teeth there may be an excessive number of cavities.
   
   There may also be cleft palate and/or cleft lip.

 

3. Musculoskeletal/Jaw bones: If a person never develops teeth, the alveolar bone, the bone that supports the teeth, never develops. This creates a condition unfavorable for wearing a complete or partial denture. It could be concluded that the lack of natural teeth adversely affects the growth and development of the jaw. Studies show that placing dental implants in the jaw decreases or stops the bone loss. In some cases the bone loss is reversed.

 

4. Hair: The scalp hair is sparse, fine, lightly pigmented, and abnormal in texture. Often, scanty or total absence of hair is evident. The hair is also dry because the oil glands are absent or poorly developed. Sometimes the hair on the scalp appears normal early on but often becomes thin, sparse, or absent after puberty.
   
   The eyebrows, eyelashes and other body hair may also be absent or sparse.

 

5. Fingers, Toes, Nails: Small, extra or absent fingers or toes may be noted. Small, unusual or slow growing nails are also noted. Nails may be malformed, thick, discolored, brittle, and hyperconvex or absent. There is a destruction of the nail matrix, the basic substance that the nail develops from. Sometimes the nails fail to grow to the end of the finger. The nails may be thin and fragile, thick and distorted, brittle and slow growing. Nails with any of the listed abnormalities may be prone to infection.
   
   The nail manifestations in the hypohidrotic form of ED are not as evident as they are in the hidrotic form although they may exist at various degrees.

 

6. Ocular/Eye: Few or no tears cause irritation to the eyes, conjunctivitis, and a sensitivity to sunlight. There may also be cloudy corneas or cataracts. Sometimes a condition called strabismus may be evident. This is an eye condition in which both eyes are crossed.

 

7. Ear, Nose, Throat and Mucous Glands: The linings of the nose, larynx, trachea and lungs are normally moistened by various glands. In ED, these glands may be defective. This generalized underproduction of body fluids leads to several problems. The decreased number of sweat glands and mucous glands, along with the absence of the tiny cilia (small hairs), in the upper respiratory tract and ear canal results in diminished resistance to infections. This also leads to the mucous secretions of the nose being exceedingly thick and foul smelling, the secretions also form a crusty mass. Nasal infections are quite common along with frequent colds, pneumonia and/or respiratory tract and ear infections.
   
   Saliva is sparse, causing problems with chewing, tasting, and swallowing foods. There may be yeast infections of the mouth.
   
   Nerve or other deafness may be present.
   
   Abnormal ear wax production causes excessive accumulation of wax in the ear canal. This condition may also lead to frequent ear infections.
   
   A hoarse and raspy voice is also quite common.
   
   In many cases, affected infants and children may also exhibit underdeveloped or absent mucous glands within the respiratory and gastrointestinal (GI) tracts. In some cases, decreased function of certain components of the immune system (i.e., depressed lymphocyte function, cellular immune hypofunction), could potentially cause an increased susceptibility to certain infections and/or allergic conditions. Some people with ED have abnormal immunoglobulin production. This may be related to the abnormal mucosa of the gastrointestinal and respiratory tracts. Many affected infants and children experience recurrent attacks of wheezing and breathlessness (asthma); respiratory infections; chronic pus-producing inflammation of the nasal passages; scaling, itchy skin rashes (eczema); and/or other findings.

 

8. Other Manifestations: Gonadal abnormalities, unequal breast development, malformed or absent nipples, mental retardation in selected patients, as well as recurrent pulmonary infections are often noted.
   
   Feeding problems, poor weight gain, gastroesphophageal reflux, frequent vomiting or swallowing difficulties may also be present.
   
   Patients usually exhibit a fine smooth dry skin because of the partial or complete absence of sweat glands. The skin is often lightly pigmented and thin, and prone to rashes and skin infections. The light skin color makes veins easily visible.
   
   Facial characteristics are a thick skull bone, under developed cheekbone, flattened nasal bridge (sometimes called saddle nose), prominent low-set ears, prominent chin, and thick everted lips.

APECED Syndrome is a very rare genetic syndrome involving the autoimmune system. It is a combination of several distinct disorders. APECED stands for Autoimmune Polyendocrinopathy (APE), Candidiasis (C) and Ectodermal Dysplasia (ED). Major symptoms may include low calcium and phosphate levels in the blood, lack of tooth enamel, loss of hair and absence of pigment in areas of the skin. An eye disorder, corneal dystrophy, may also occur. There may be failure of sexual development, yeast infections of the mouth and nails, and the inability to properly absorb nutrients from food. Patients may develop liver disease or insulin- dependent diabetes as well as any combination of the various disorders.

Clouston Syndrome is one type of ED. It is often noticed among the French- Canadian population in Northern America, and is usually noticeable from the time of birth. Males and females are equally affected. Nail dystrophy (malformed nails), various diseases of the nail, alopecia (partial or complete hair loss), and palmoplantar hyperkeratosis (skin on palms of hands and soles of feet is very thick and dry) are often present. The clubbing, that is, the rounding of the skin of the fingers, and the swollen finger ends, can be helpful for diagnosing the condition as Clouston Syndrome ED.

Dentin Dysplasia-Radicular is a genetic disorder characterized by atypical formation of the calcified tissue between the enamel pulp of the teeth (dentin). The teeth lack pulp chambers or have half-moon shaped pulp chambers in short or abnormal shaped roots. The color of the teeth is usually normal.

Dentinogenesis Imperfecta, Type III is a genetic dental disorder characterized by rapid erosion of crowns of the baby and permanent teeth soon after they erupt. The inside of the teeth (dental pulp), which is filled with blood vessels and nerve endings, is usually exposed. Other genetic traits may accompany these tooth abnormalities.

Dyschondrosteosis is a rare disorder that is inherited through an autosomal dominant trait. Male-to-male transmission has been observed in multiple cases. The major features of this disorder are a deformity of the wrist called Madelung Deformity and abnormally short forearms and lower legs --short stature.

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate (EEC Syndrome) is a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait. It can vary from mild symptoms to severe. The most common symptoms found in patients with EEC Syndrome are: missing or irregular fingers and/or toes, abnormalities of the hair and glands, cleft lip and/or palate, or unusual facial features, as well as abnormalities of the eyes and urinary tract.

Ellis-Van Creveld Syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes, abnormal development of fingernails and, in over half of the cases, congenital heart defects. This disorder is inherited through an autosomal recessive trait.

Focal Dermal Hypoplasia is a rare form of ectodermal dysplasia that is thought to be inherited as an X-linked dominant genetic trait with lethality in males. It is found primarily in females. This disorder is characterized by skin abnormalities in which there are underdeveloped areas of skin that form streaks or lines and tumor-like herniations of fat on the skin. Skeletal, facial, dental, ocular and soft tissue defects are also present.

Hay-Well's Syndrome is one of a group of rare genetic skin disorders known as the Ectodermal Dysplasias. Major characteristics of this disorder include cleft lip and/or palate, fusion of one or both eyelids together, absent or defective nails, coarse, sparse or wiry hair, diminished ability to sweat, and missing, widely spaced, or cone-shaped teeth. Hay-Well's Syndrome is inherited as a autosomal dominant trait.

Hypohidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. HED is primarily characterized by partial or complete absence of certain sweat glands (eccrine glands), causing lack of or diminished sweating, heat intolerance, and fever; abnormally sparse hair; and absence and/or malformation of certain teeth.

Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken nasal bridge (so-called "saddle nose"), unusually thick lips, and/or a large chin. The skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack of pigmentation. However, the skin around the eyes may be darkly pigmented and finely wrinkled, appearing prematurely aged. In many cases, affected infants and children may also exhibit underdevelopment or absence of mucous glands within the respiratory and gastrointestinal (GI) tracts and, in some cases, decreased function of certain components of the immune system (e.g., depressed lymphocyte function, cellular immune hypofunction), potentially causing an increased susceptibility to certain infections and/or allergic conditions.

Many affected infants and children experience recurrent attacks of wheezing and breathlessness (asthma); respiratory infections; chronic pus-producing inflammation of the nasal passages, scaling, itchy skin rashes (eczema); and/or other findings. In approximately 30 to 50 percent of cases, mild mental retardation is also present. The range and severity of symptoms and physical findings associated with the disorder vary from case to case. HED is usually inherited as an X-linked recessive genetic trait; in such cases, the disorder is fully expressed in males only. However, females who carry a single copy of the disease gene may exhibit some of the symptoms and findings associated with the disorder. These may include absence and/or malformation of certain teeth, sparse hair, and/or reduced sweating.

Researchers also have reported cases in which HED appears to be inherited as an autosomal recessive genetic trait. In such cases, the disorder is fully expressed in both males and females.

LADD Syndrome is a rare genetic disorder inherited through an autosomal dominant trait. The major feature of this syndrome is malformations of the upper limbs. Other symptoms of the disorder may include: malformations in the network of structures of the eye that secretes tears and drains them from the surface of the eyeball (lacrimal malformations); abnormalities of the teeth; small cupped ears; absent or underdeveloped salivary glands; hearing loss; abnormalities of the sexual and urinary system of the body (genitourinary) and/or unusual skin ridge patterns.

Oculo-Dento-Digital Dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). Major symptoms of Oculo-Dento-Digital Dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye, a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril, defective tooth enamel and dry hair that grows slowly.

Rieger Syndrome is a rare autosomal dominant genetic disorder characterized by absence and/or malformation of certain teeth; mild craniofacial abnormalities; and various eye abnormalities. The eye abnormalities (referred to as Rieger Eye Malformations) may be present alone or as a part of Rieger Syndrome.

Rothmund-Thomson Syndrome is an extremely rare inherited multisystem disorder that is usually apparent during early infancy. The disorder is typically characterized by distinctive abnormalities of the skin, defects of the hair, clouding of the lenses of the eyes (juvenile cataracts), short stature and other skeletal abnormalities, malformations of the head and facial (craniofacial) area, and other physical abnormalities. In rare cases, mental retardation may be present. The range and severity of symptoms may vary from case to case.

During early infancy, individuals with Rothmund-Thomson Syndrome develop abnormally red, inflamed patches on the skin) accompanied by abnormal accumulations of fluid between layers of tissue under the skin. Such plaques typically first appear on the cheeks. In most cases, additional areas of the skin may then become involved to a lesser degree (i.e., the skin of the ears, forehead, chin, hands, forearms, lower legs, etc.). Inflammation eventually tends to recede and the skin of affected areas develops a condition known as poikiloderma, characterized by abnormal widening of groups of small blood vessels; skin tissue degeneration; and patchy areas of abnormally decreased and/or unusually increased pigmentation. In many cases, additional skin abnormalities may also occur.

Many infants and children with Rothmund-Thomson Syndrome also have additional physical abnormalities including hair that is gray and abnormally sparse; the development of abnormal clouding of the lenses of the eyes (juvenile cataracts); growth delays leading to mild to severe short stature (dwarfism); and/or additional skeletal abnormalities such as unusually small, short hands and feet, underdeveloped or absent thumbs, and/or underdeveloped or missing forearm bones. Affected infants and children may also have characteristic abnormalities of the craniofacial area including a prominent forehead (frontal bossing), a sunken nasal bridge (saddle nose), a protruding lower jaw, and/or dental abnormalities. In some cases, affected individuals may have additional physical abnormalities including deficient activity of the ovaries in females or testes in males, resulting in irregular menstruation in affected females and delayed sexual development in affected males and females. Rothmund-Thomson Syndrome is inherited as an autosomal recessive genetic trait.

Setleis Syndrome is an extremely rare inherited disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. Setleis Syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). Most affected infants have multiple, scar-like, circular depressions on both temples. These marks closely resemble those made when forceps are used to assist delivery. In addition, affected infants may have puffy, wrinkled skin around the eyes (periorbital) and/or abnormalities of the eyelashes, eyebrows, and eyelids.

Infants with Setleis Syndrome may be missing eyelashes on both the upper and lower lids, or they may have multiple rows of lashes on the upper lids but none on the lower lids. In addition, in some cases, the bridge of the nose may appear flat, while the tip may appear unusually rounded. Affected infants often have loose, excessive skin, particularly in the area of the nose and the chin. Due to such facial abnormalities, infants with Setleis Syndrome may have an aged and/or "leonine" (lion-like) appearance. The range and severity of symptoms may vary from case to case. Most cases of Setleis Syndrome are thought to be inherited as an autosomal recessive genetic trait

Singleton-Merten Syndrome is an extremely rare disorder characterized by abnormalities of the teeth accumulation of calcium deposits in the major artery of the body (aorta) and certain valves of the heart (i.e., aortic and mitral valves), and/or progressive thinning and loss of protein of the bones (osteoporosis). Dental abnormalities may include malformed teeth and/or premature loss of primary teeth. Abnormal accumulations of calcium deposits in the aorta may lead to narrowing of the aorta, resulting in life-threatening complications (i.e., heart block, heart failure, etc.). Other physical findings associated with Singleton-Merten Syndrome may include generalized muscle weakness; progressive loss or wasting away of muscle tissue (atrophy); growth retardation, possibly resulting in short stature; delays in motor development; a skin condition characterized by thickened patches of red, scaly skin, particularly on the fingers; and/or malformation of the hips and/or feet. Singleton-Merten Syndrome appears to occur randomly for no apparent reason (sporadic).

Another form of ED, Split-hand Deformity is a genetic disorder characterized by the absence of fingers or parts of fingers, commonly occurring with a cleft of the hand. This combination often gives the hand a clawlike appearance. When a cleft does occur, it usually affects both hands and both feet.

Trichorhinophalangeal Syndrome Type II (TRPS2), also known as Langer-Giedion Syndrome, is an extremely rare inherited multisystem disorder. This form of ED is characterized by progressive growth retardation resulting in short stature; abnormally short fingers and toes; "cone-shaped" formation of the "growing ends" of certain bones; and/or development of multiple bony growths projecting outward from the surfaces of various bones of the body. In addition, affected individuals may exhibit unusually flexible joints, diminished muscle tone, excess folds of skin and/or discolored elevated spots on the skin. Affected individuals may also exhibit mild to severe mental retardation, hearing loss, and/or delayed speech development. The range and severity of symptoms may vary from case to case.

Another form of ED, characterized by kinky or curly hair; is Tricho-Dento- Osseous (TDO) syndrome. Manifestations may include poorly developed tooth enamel; and unusual thickness and/or denseness of the top portion of the skull and/or the long bones (e.g., bones in the arms and legs). In some cases, affected individuals also exhibit abnormally thin, brittle nails or premature closure of the fibrous joints between certain bones in the skull, causing the head to appear abnormally long and narrow.

Yunis-Varon Syndrome is an extremely rare inherited multisystem disorder with defects affecting the skeletal; ectodermal tissue (e.g., nails, hair, and teeth); and ardiorespiratory (e.g., heart and lungs) systems. It is characterized by growth retardation prior to and after birth; defective growth of the bones of the skull along with complete or partial absence of the shoulder blades. Characteristic facial features may include an extremely small jaw, thin lips, sparse or absent eyebrows and/or eyelashes, and/or an unusually short vertical groove in the upper lip. Abnormalities of the fingers and toes may include absence or underdevelopment of the thumbs and/or the bones at the ends of the fingers and the great toes. In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects (i.e., abnormal enlargement of the heart muscle [hypertrophic cardiomyopathy]). In some cases, feeding problems, respiratory difficulties, and/or heart defects may result in life-threatening complications during infancy. Yunis-Varon Syndrome is thought to be inherited as an autosomal recessive genetic trait.

• Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasias
• Nail Dystrophy-Deafness Syndrome
• Anodontia
• Robertson's Ectodermal Dysplasias
• Christ-Siemans-Touraine Syndrome
• Oral-Facial-Digital Syndrome (Type I)
• Palmoplantar Hyperkeratosis and Alopecia
• Incontinentia Pigmenti
• Hypoplastic Enamel-Onycholysis-Hypohidrosis
• Book Syndrome
• Gorlin's Syndrome
• Schopf-Schultz-Passarge Syndrome
• Facial Ectodermal Dysplasias
• Chaund's Ectodermal Dysplasias
• Pachyonychia Congenita
• Rosselli-Gulienatti Syndrome
• Freire-Maia Syndrome
• Dentooculocutaneous Syndrome
• Triphalangeal Thumbs-Hypoplastic Distal Phalanges-Onychodystrophy
• Chondroectodermal Dysplasias
• Otodental Dysplasia
• Tooth and Nail Syndrome
• Naegeli Ectodermal Dysplasias
• Trichorhinophalangeal Syndrome
• Odontotrichomelic Syndrome
• Trichodento Osseous Syndrome
• Monilethrix
• Xeroderma, Talipes, and Enamel Defect
• Marshall's Ectodermal Dysplasias With Ocular nad Hearing Defects
• Curly Hair-Ankyloblephanon-NailDysplasia
• Anhidrotic X-Linked Ectodermal Dysplasias
• Onychotrichodysplasia with Neutropenia
• Hidrotic Ectodermal Dysplasias
• Stevanovic's Ectodermal Dysplasias
• Witkop Ectodermal Dysplasias

Please keep this in mind: The ED Mailing List and this web site are contributed to and maintained by individuals who have been touched by ED. Many of the postings deal with the ways these individuals have handled their ED. You are welcome to contribute to the discussion and take whatever information you find useful. Please remember: this List and web site are not affiliated with any medical group, hospital or physician. Any advice or suggestions you gain from these postiings are to be used at your own risk.