Q82.4 - Ectodermal dysplasia (anhidrotic)

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• Ackerman syndrome
• Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
• Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia
• Amelo-onycho-hypohidrotic syndrome
• Anhidrotic ectodermal dysplasia with immune deficiency
• Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
• Anonychia
• Anonychia with bizarre flexural pigmentation
• Arthrogryposis and ectodermal dysplasia syndrome
• Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
• Basan syndrome
• Berlin syndrome
• Blepharocheilodontic syndrome
• Book syndrome
• BRESEK syndrome
• Cerebellar ataxia and ectodermal dysplasia
• Congenital anomaly of macula
• Congenital anomaly of oral mucosa
• Congenital hypoplasia of breast
• Contracture with ectodermal dysplasia and orofacial cleft syndrome
• Cranioectodermal dysplasia
• Curly hair, ankyloblepharon, nail dysplasia syndrome
• Curry-Hall syndrome
• Cutaneous syndrome with ichthyosis
• Dento-oculocutaneous syndrome
• Dermodental dysplasia
• Dermo-odonto dysplasia
• Dermotrichic syndrome
• Ectodermal dysplasia
• Ectodermal dysplasia and sensorineural deafness syndrome
• Ectodermal dysplasia syndactyly syndrome
• Ectodermal dysplasia trichoodontoonychial type
• Ectodermal dysplasia with blindness syndrome
• Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome
• Ectodermal dysplasia with hair-nail defect
• Ectodermal dysplasia with hair-tooth defects
• Ectodermal dysplasia with hair-tooth-nail defects
• Ectodermal dysplasia with hair-tooth-nail-sweating defect
• Ectodermal dysplasia with nail defect
• Ectodermal dysplasia with natal teeth Turnpenny type
• Ectodermal dysplasia with sweating defect
• Ectodermal dysplasia with tooth-nail defects
• Ectodermal dysplasia with tooth-nail-sweating defect
• Ectodermal dysplasia with tooth-sweating defect
• Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
• Ectodermal dysplasia, syndactyly and pili torti
• Ectodermal dysplasia-ocular malformation syndrome
• Ectodermal syndrome with hair-sweating defects
• Ectodermal syndrome with hair-tooth-sweating defects
• Focal facial dermal dysplasia
• Focal facial dermal dysplasia type I
• Focal facial dermal dysplasia type II
• Focal facial dermal dysplasia type III
• Focal facial dermal dysplasia type IV
• Fried's tooth and nail syndrome
• Genetic defect of hair shaft
• Genetic defect of hair shaft
• Greither type of ectodermal dysplasia
• Hay-Wells syndrome of ectodermal dysplasia
• Hypohidrosis
• Hypohidrosis-diabetes insipidus syndrome
• Hypohidrotic X-linked ectodermal dysplasia
• Johanson-Blizzard syndrome
• Keratitis ichthyosis and deafness syndrome
• Kirman syndrome
• Lelis syndrome
• Limb mammary syndrome
• Marshall syndrome
• Melanosis of mucosa of body orifice
• Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
• Neonatal tooth
• Oculoosteocutaneous syndrome
• Odonto onycho dysplasia with alopecia syndrome
• Odontomicronychial ectodermal dysplasia
• Odonto-onychial dysplasia with alopecia
• Odonto-onycho-dermal dysplasia
• Odonto-tricho-ungual-digito-palmar syndrome
• Onycho-tricho-dysplasia neutropenia syndrome
• Pilodental dysplasia, refractive errors syndrome
• Premature tooth eruption
• Robinson nail dystrophy-deafness syndrome
• Roselli-Gulienetti ectodermal dysplasia
• Sabinas brittle hair syndrome
• Salamon's syndrome
• Sandman-Andra syndrome
• Schinzel-Giedion syndrome
• Schoepf-Schulz-Passage syndrome
• Senter syndrome
• Tricho-dento-osseous syndrome
• Trichodermodysplasia and dental alterations syndrome
• Trichodysplasia with amelogenesis imperfecta syndrome
• Tricho-oculodermovertebral syndrome
• Trichoodontoonychial dysplasia
• Tricho-onychodental dysplasia
• Trichothiodystrophy
• Trichothiodystrophy
• Zlotogora Ogur syndrome

Clinical Information

• Ectodermal Dysplasia-. a group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. they are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. they are generally nonprogressive and diffuse. various forms exist, including anhidrotic and hidrotic dysplasias, focal dermal hypoplasia, and aplasia cutis congenita.
• Ectodermal Dysplasia 1, Anhidrotic-. an x-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.
• Ectodermal Dysplasia 3, Anhidrotic-. an autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the edar receptor.
• Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive-. an autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the edar receptor or edar-associated death domain protein.
• Focal Facial Dermal Dysplasias-. a heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. focal facial dermal dysplasia (ffdd) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: ffdd1 (brauer syndrome); ffdd2 (brauer-setleis syndrome); ffdd3 (setleis syndrome); and ffdd4. mutations in twist2 protein and/or cyp26c1 (see cyp26 family) are associated with ffdd3, and 4.
• Hypohidrosis-. abnormally diminished or absent perspiration. both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.
• Focal Dermal Hypoplasia-. a genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. it is found exclusively in females and transmitted as an x-linked dominant trait.
• Edar Receptor-. a ectodysplasin receptor subtype that is specific for ectodysplasin a1. it signals via the specific signaling adaptor edar-associated death domain protein. loss of function of the edar receptor is associated with autosomal recessive anhidrotic ectodermal dysplasia and ectodermal dysplasia 3, anhidrotic.
• Anhidrotic Ectodermal Dysplasia 1-. a rare genetic disorder characterized by mutations in the gene encoding ectodysplasin a. it results in abnormalities in the morphogenesis of the structures originating from the ectoderm.
• Autosomal Recessive Hypohidrotic Ectodermal Dysplasia-. a rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. patients have a reduced ability to sweat. other signs and symptoms include hypotrichosis and teeth malformations.
• Cleft Lip/Palate-Ectodermal Dysplasia Syndrome|CLPED1-. a very rare genetic disorder characterized by cleft lip and palate, sparse scalp hair, and partial syndactyly of the fingers and toes.
• Cranioectodermal Dysplasia|Sensenbrenner Syndrome-. an autosomal recessive disorder associated with mutation(s) in at least one of four genes (wdr35, ift122, wdr19, or ift43). it is characterized by distinctive abnormalities of the face and skull, in association with developmental abnormalities of the structures derived from ectodermal tissues.
• Ectodermal Dysplasia-. a group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands.
• Ectodermal Dysplasia and Immunodeficiency 1|EDAID1|IKBKG/NEMO|NEMO Deficiency Syndrome-. an x-linked recessive condition caused by mutation(s) in the ikbkg gene, encoding nf-kappa-b essential modulator (nemo). it is characterized by the onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. affected individuals may present with ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair.
• Ectodermal Dysplasia and Immunodeficiency 2|Autosomal Dominant Anhidrotic Ectodermal Dysplasia|EDAID2|Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2|Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant|Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2-. a rare disorder caused by mutations in the nfkbia gene resulting in an autosomal dominant inheritance pattern. it is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. it results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. patients have abnormally low levels of antibodies causing inability to fight infections.
• Ectodermal Dysplasia and Immunodeficiency|Anhidrotic Ectodermal Dysplasia with Immune Deficiency|EDA-ID|Hypohidrotic Ectodermal Dysplasia with Immune Deficiency-. a rare disorder caused by mutations either in the ikbkg gene resulting in an x-linked recessive inheritance pattern or in the nfkbia gene resulting in an autosomal dominant inheritance pattern. it is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. it results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. patients have abnormally low levels of antibodies causing inability to fight infections.
• Ectodysplasin-A1|ED1-A1|EDA Protein|EDA-A1|EDA1|Ectodermal Dysplasia Protein 4|Ectodysplasin A|Ectodysplasin A Isoform 1|Ectodysplasin A1|Ectodysplasin A1 Isoform|Ectodysplasin-A|Ectodysplasin-A Isoform 1|Tumor Necrosis Factor Ligand 7C|X-Linked Anhidroitic Ectodermal Dysplasia Protein-. ectodysplasin-a1 (391 aa, ~41 kda) is encoded by the human eda gene. this protein plays a role in the positive regulation of signaling mediated by tumor necrosis factor receptor superfamily member edar.
• Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome|EEC Syndrome-. a rare form of ectodermal dysplasia, inherited in an autosomal dominant fashion, manifesting with varying degrees of severity, ectrodactyly and cleft lip/palate.
• EDA wt Allele|ECTD1|ED1|ED1-A1|ED1-A2|EDA|EDA-A1|EDA-A2|EDA1|EDA2|Ectodermal Dysplasia 1, Anhidrotic Gene|Ectodysplasin A wt Allele|Ectodysplasin Gene|HED|HED1|ODT1|Oligodontia 1 Gene|STHAGX1|TNLG7C|XHED|XLHED-. human eda wild-type allele is located in the vicinity of xq13.1 and is approximately 423 kb in length. this allele, which encodes ectodysplasin-a protein, is involved in the morphogenesis of ectodermally derived tissues. mutation of the gene is associated with x-linked hypohidrotic ectodermal dysplasia type 1 and x-linked, selective tooth agenesis type 1.
• Ellis-Van Creveld Syndrome|Chondroectodermal Dysplasia|Chondroectodermal Dysplasia-. a rare autosomal recessive syndrome caused by mutations in the evc gene. it is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. there is an increased frequency of congenital heart malformations.
• NECTIN1 wt Allele|CD111|CLPED1|ED4|Ectodermal Dysplasia 4 (Margarita Island Type) Gene|HIgR|HV1S|HVEC|Herpes Simplex Virus Type 1 Sensitivity Gene|Nectin Cell Adhesion Molecule 1 wt Allele|OFC7|PRR|PRR1|PVRL1|PVRR|PVRR1|Poliovirus Receptor-Related 1 (Herpesvirus Entry Mediator C) Gene|SK-12-. human nectin1 wild-type allele is located in the vicinity of 11q23.3 and is approximately 106 kb in length. this allele, which encodes nectin-1 protein, is involved in both viral entry and the promotion of cell-cell adhesion. mutation of the gene is associated with both cleft lip/palate-ectodermal dysplasia syndrome and orofacial cleft 7.
• Tumor Necrosis Factor Receptor Superfamily Member EDAR|Anhidrotic Ectodysplasin Receptor 1|Downless Homolog|EDA-A1 Receptor|EDAR|Ectodermal Dysplasia Receptor|Ectodysplasin A Receptor|Ectodysplasin A1 Isoform Receptor|Ectodysplasin-A Receptor-. tumor necrosis factor receptor superfamily member edar (448 aa, ~49 kda) is encoded by the human edar gene. this protein is involved in signaling that modulates the development of ectodermal structures.
• Marshall Syndrome-. an autosomal dominant condition caused by mutation(s) in the col11a1 gene, encoding collagen alpha-1(xi) chain. the syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. mutation(s) in the col11a1 gene are causative in stickler syndrome, but the phenotype of marshall syndrome is more mild.
• Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome|Marshall Syndrome|Marshall Syndrome|PFAPA Syndrome|PFAPA Syndrome-. an autoinflammatory syndrome of childhood which often resolves in adolescence, and is characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. the fever cycle generally occurs every three to five weeks, and during the interim periods the child appears healthy; diagnosis is exclusionary.
• Grade 2 Hypohidrosis, CTCAE|Grade 2 Hypohidrosis-. symptomatic; limiting instrumental adl
• Grade 3 Hypohidrosis, CTCAE|Grade 3 Hypohidrosis-. increase in body temperature; limiting self care adl
• Grade 4 Hypohidrosis, CTCAE|Grade 4 Hypohidrosis-. heat stroke
• Grade 5 Hypohidrosis, CTCAE|Grade 5 Hypohidrosis-. death
• Hypohidrosis-. reduced sweating. causes include burns, dehydration, radiation, and leprosy.
• Hypohidrosis, CTCAE|Hypohidrosis|Hypohidrosis-. a disorder characterized by reduced sweating.

Diagnostic Related Groups - MS-DRG Mapping

The is diagnosis code is grouped in the following groups for version MS-DRG V40.0 What are Diagnostic Related Groups?
The Diagnostic Related Groups (DRGs) are a patient classification scheme which provides a means of relating the type of patients a hospital treats. The DRGs divides all possible principal diagnoses into mutually exclusive principal diagnosis areas referred to as Major Diagnostic Categories (MDC). applicable from 10/01/2022 through 09/30/2023.

Present on Admission (POA)

Q82.4 is exempt from POA reporting - The Present on Admission (POA) indicator is used for diagnosis codes included in claims involving inpatient admissions to general acute care hospitals. POA indicators must be reported to CMS on each claim to facilitate the grouping of diagnoses codes into the proper Diagnostic Related Groups (DRG). CMS publishes a listing of specific diagnosis codes that are exempt from the POA reporting requirement. Review other POA exempt codes here.

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Patient Education

Skin Conditions

Your skin is your body's largest organ. It covers and protects your body. Your skin:

• Holds body fluids in, preventing dehydration
• Keeps harmful microbes out, preventing infections
• Helps you feel things like heat, cold, and pain
• Keeps your body temperature even
• Makes vitamin D when the sun shines on it

Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Anhidrotic ectodermal dysplasia with immune deficiency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth, and due to the severity of the immune system problems, most people with this condition survive only into childhood.

Skin abnormalities in children with EDA-ID include areas that are dry, wrinkled, or darker in color than the surrounding skin. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed. Most children with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather and during exercise, because the body cannot cool itself by evaporating sweat.

The immune deficiency in EDA-ID varies among individuals with this condition. Children with EDA-ID often produce abnormally low levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies makes it difficult for children with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections.

Children with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis.

There are two forms of EDA-ID that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.

Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening health problems.

Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. Hypohidrotic ectodermal dysplasia is also characterized by several missing teeth (hypodontia) or teeth that are malformed. The teeth that are present erupt from the gums later than usual and are frequently small and pointed.

Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition can include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nostrils (ozena).

Intellectual ability and growth are typically normal in people with hypohidrotic ectodermal dysplasia.

Code History

• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016 (First year ICD-10-CM implemented into the HIPAA code set)