ectodermal dysplasia 13

Ectodermal dysplasia-13 (ED13) is a rare genetic disorder characterized by severe oligodontia, which refers to the congenital absence or significant reduction in the number of teeth. This condition is accompanied by anomalies of hair and skin.

According to various sources [4][6], ED13 is associated with severe oligodontia, where individuals may be born without some or all of their teeth. Additionally, this condition is also linked to abnormalities in hair and skin, which can manifest as sparse hair, abnormal hair texture, or other skin-related issues.

ED13 is a rare form of ectodermal dysplasia, a group of inherited disorders that affect the development of two or more ectodermal structures, such as hair, nails, teeth, or sweat glands [2][7]. The exact cause and inheritance pattern of ED13 are not well understood, but it is believed to be caused by mutations in specific genes.

It's worth noting that diagnosing ED13 can be challenging, and a comprehensive evaluation by a healthcare professional may be necessary to confirm the diagnosis.

Ectodermal dysplasias are a group of rare genetic disorders that affect the development of certain tissues in the body, including the skin, hair, nails, teeth, and sweat glands. The signs and symptoms of ectodermal dysplasia can vary depending on the specific type and severity of the condition.

Common Signs and Symptoms:

• Teeth: Reduced number, abnormal shape or size [4]
• Hair: Abnormal structure, sparse, slow-growing, often light-colored [3][4]
• Sweat glands: Often absent or underdeveloped, leading to decreased sweating [5][6]
• Nails: Abnormal fingernails and toenails [5]
• Skin: Dry with superficial scaling and proneness to dermatitis [9]

Other Possible Symptoms:

• Abnormal nails (thick, thin, abnormally shaped or ridged) [3]
• Missing, sparse, or very light-colored hair [2][3]
• Cleft lip or palate [7]
• Decreased skin color (pigment) [2]
• Large or small teeth [2]

It's worth noting that the severity and specific symptoms of ectodermal dysplasia can vary widely from person to person. In some cases, the condition may be mild and only affect a few areas of the body, while in other cases it can be more severe and have a significant impact on daily life.

References: [1] Not provided (user query) [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9

Diagnostic Tests for Ectodermal Dysplasia

Ectodermal dysplasia can be diagnosed through a combination of physical examination, genetic testing, and other medical tests.

• Physical Examination: A physician or dentist can make a clinical diagnosis of ectodermal dysplasia based on the medical signs a person displays in a physical examination [1].
• Genetic Testing: Common samples used for genetic testing include blood, saliva, buccal (cheek) swab, or skin biopsy. The testing laboratory looks at DNA from these samples and can help diagnose ED [2]. In some cases, a genetic test may help diagnose ED, especially if there is a family history of the disorder [4].
• Imaging Tests: Renal ultrasonography, voiding cystourethrography, and intravenous pyelography may be helpful in evaluating children with ectodermal dysplasia, particularly for assessing urinary tract abnormalities [3].

Additional Diagnostic Tools

Other tests that may be used to diagnose ectodermal dysplasia include:

• Biopsy: Biopsy of the mucous membranes or skin can help confirm a diagnosis of ED [8].
• Sweat Pore Counts: Sweat pore counts and pilocarpine iontophoresis can also be used to document sweat gland abnormalities associated with ED [10].

Genetic Panels

Some genetic panels, such as the Invitae Ectodermal Dysplasia and Related Disorders Panel, analyze genes that are associated with disorders affecting ectodermal tissues [5]. A 25 gene panel that includes assessment of non-coding variants is also available for patients with a clinical suspicion of ectodermal dysplasia [6].

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [8] - Context result 8 [10] - Context result 10

According to Mary Fete, R.N., M.S.N., C.C.M., director of research at a patient advocacy foundation, there is a novel potential treatment on the horizon for hypohidrotic ectodermal dysplasia (HED) called EDI200. This new approach is considered one of the most exciting developments in current research for therapy.

EDI200 is a promising treatment that may offer relief to individuals affected by HED. However, it's essential to note that this information is based on a single search result and more research is needed to confirm its effectiveness.

It's worth mentioning that ectodermal dysplasias are a group of rare genetic diseases characterized by abnormalities in two or more ectodermal-derived structures, such as hair, teeth, nails, and sweat glands. Treatment for these conditions often depends on the specific disease manifestations and may involve various approaches to minimize symptoms [14].

As of now, there is limited information available on EDI200, and further research is required to understand its potential benefits and limitations.

References: [13] A novel potential treatment is on the horizon for hypohidrotic ectodermal dysplasia (HED), according to the director of research at a patient advocacy foundation. [14] Ectodermal dysplasias comprise a heterogeneous group of rare genetic diseases in which two or more derivatives of the embryonic surface ectoderm — the skin, hair, teeth, nails, or sweat or other ...

Differential Diagnoses of Ectodermal Dysplasia

Ectodermal dysplasias (EDs) are a group of genetic disorders that affect the development of two or more ectodermal structures, such as skin, hair, nails, teeth, and sweat glands. When diagnosing ectodermal dysplasia, it is essential to consider differential diagnoses to rule out other conditions with similar symptoms.

Main Differential Diagnoses:

• Alopecia Areata: An autoimmune disease that causes patchy hair loss.
  • Absence of hypotrichosis or atrichia (complete absence of hair) is the main distinguishing feature between ectodermal dysplasia and alopecia areata [3].
• Aplasia Cutis Congenita: A rare congenital disorder characterized by the absence or underdevelopment of skin.
  • Clinical differential considerations for ectodermal dysplasia include aplasia cutis congenita [7].
• Focal Dermal Hypoplasia Syndrome: A rare genetic disorder that affects the development of skin and other ectodermal structures.
  • Palmoplantar keratoderma is focal in PC (vs diffuse in most cases of HED2), which can help distinguish it from ectodermal dysplasia [4].
• Incontinentia Pigmenti: A rare genetic disorder that affects the development of skin, hair, and nails.
  • Diagnosis is confirmed by genetic testing, and differential diagnoses include other types of ED like odonto-onycho-dermal dysplasia and certain forms of ichthyosis [6].

Other Differential Diagnoses:

• Limb Mammary Syndrome: A rare genetic disorder that affects the development of limbs and mammary glands.
  • The main differentials of EEC (Ectrodactyly-Ectodermal Dysplasia-Clefting) syndrome are limb mammary syndrome and ADULT syndrome [3].
• ADULT Syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth): A rare genetic disorder that affects the development of skin, hair, nails, lacrimal glands, and teeth.
  • The main differentials of EEC syndrome are limb mammary syndrome and ADULT syndrome [3].

References:

[1] Feb 10, 2019 — Differential Diagnoses · Alopecia Areata · Aplasia Cutis Congenita · Focal Dermal Hypoplasia Syndrome · Incontinentia Pigmenti · Naegeli- ... [2] 156 Differential diagnosis should be established mainly with EEC syndrome ... X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early ... [3] by VD Majmundar · 2023 · Cited by 10 — EEC Syndrome: The main differentials of EEC are limb mammary syndrome and ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth). The presence of normal scalp hair ... [4] Absence of hypotrichosis or atrichia is the main distinguishing feature. Palmoplantar keratoderma is focal in PC (vs diffuse in most cases of HED2). [5] by TJ Fete · Cited by 3 — The ectodermal dysplasias (EDs) are a heterogeneous group of nearly 50 genetic disorders affecting the development of two or more ectodermal ... [6] Diagnosis is confirmed by genetic testing. Differential diagnoses include other types of ED like odonto-onycho-dermal dysplasia and certain forms of ichthyosis ... [7] Jan 17, 2022 — Differential diagnosis. Clinical differential considerations for ectodermal dysplasia include: alopecia areata · aplasia cutis congenita · focal ... [8] by SJ Thannhauser · 1946 · Cited by 4 — This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables. Abstract.