Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.

Ectodermal dysplasia (ED) is a rare disorder that appears differently in clinical cases and can present with a variety of combinations and severities of abnormalities that can involve a variety of tissues. The disease might appear clinically as hypotrichosis, hypohidrosis, or hypodontia, among other clinical manifestations. The patient, a five-year-old boy, was seen at the Taibah University Dental Clinic and was diagnosed with X-linked hypohidrotic ectodermal dysplasia type 1 based on clinical radiographic and genetic findings. Although there is no base data for reporting this case, the present case presentation could alert dental practitioners and expand scientific database knowledge on the dental and/or oral characteristics of this abnormality.

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands. It is a phenotypically heterogenous group of illnesses including anodontia with conical teeth, generalised spacing, reduced ability to sweat, very less hair growth, etc. The pattern of inheritance of HED varies from person to person depending on the type of ectodermal dysplasia (ED). The patterns include X-linked recessive, X-linked dominant, autosomal dominant, autosomal recessive, and spontaneous mutation. There is one such common type of ED more in female than male. It is an X-linked HED (XLHED), characterised by hypohidrosis, sparse hair, and teeth abnormalities. The other type can affect both male and female equally and may be inherited in different ways. The present case is a 21-year-old male who presented with hair, teeth, and sweat gland abnormalities.

Ectodermal dysplasia represents a group of inherited conditions in which two or more ectodermally derived anatomical structures fail to develop resulting in most notably anhidrosis/hypohidrosis, hypotrichosis and hypodontia. It is a xlinked recessive disorder with male predominance. We report a classical case in a 17-year-old male with emphasis on review of literature and latest updates.

Rapp-Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual manifestation of hidrotic ED. Ulcerations on the palms are also not common in RHS. We describe a 15-year-old boy who has RHS associated with PPK.

A 56-year-old woman with hypohidrotic ectodermal dysplasia presented with a 10-year history of persisting wart-like skin lesions on her feet. Biopsy revealed changes of eccrine syringofibroadenoma. These lesions are rare, with only nine case reports describing an association with ectodermal dysplasia of hidrotic type (Clouston and Schopf\'s syndrome). To our knowledge, this is the first case of eccrine syringofibroadenoma developing in the hypohidrotic/anhidrotic subtype of ectodermal dysplasia.

UNASSIGNED: Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A (EDA) mutation that is expected to be involved in pathogenesis of HED.
UNASSIGNED: Hypohidrotic ectodermal dysplasia genes, including EDA, EDAR and EDARADD, were analyzed using next-generation sequencing (NGS). The detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing.
UNASSIGNED: The patient presented with adontia, absence of gum development, hyperthermia and hypohidrosis. Our genetic analysis of the patient revealed a novel frameshift hemizygous mutation (c.898_924 + 8del35ins4CTTA) on the EDA gene. The patient\'s mother showed a mild HED phenotype. Direct sequencing of the EDA gene in the region where her son had the mutation showed the same mutation in a heterozygous state.
UNASSIGNED: We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient\'s symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved.

Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth. There are more than 150 different variants of ED described in literature. The condition is thought to occur in approximately 1 in every 100,000 live births. It mainly manifests in two types i.e. Hypohidrotic (Anhidrotic) type and Hydrotic type depending on degree of sweat gland function. This report presents two cases within a family, a 4 year old boy and a 6 year old girl with typical features of Hypohidrotic Hereditary ED i.e, hypodontia, hypohidrosis and hypotrichosis.

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin. It is caused by mutation in gene ectodysplasin (EDA, EDA1) located at Xq12-13. Main clinical feature of HED is sparse or absent eccrine gland as well as hypotrichosis, nail, and teeth abnormality with characteristic faces. The absence or diminished activity of sweat gland results in patients having more chances of developing hyperthermia and with intolerance to warm environment. Most do well with simple measures such as wet clothes, air conditioning, wet bands etc. We present cases of two brothers, born of non-consanguineous marriage, who presented to us with complaints of heat intolerance and abnormal facial features.