4 free views remaining today
ADULT syndrome
ICD-10 Codes
Related ICD-10:
Description
ADULT syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is a rare genetic disorder that affects multiple systems in the body.
Key Features:
- Acral abnormalities: Short fingers and toes (brachydactyly) are common features of ADULT syndrome.
- Dermatological manifestations: Skin lesions, such as hyperpigmentation or hypopigmentation, may be present on the hands and feet.
- Nail abnormalities: Nail dystrophy or nail thinning can occur in individuals with ADULT syndrome.
- Lacrimal duct obstruction: Blockage of the tear ducts (lacrimal ducts) is a common feature of this condition.
- Tooth abnormalities: Tooth agenesis, enamel hypoplasia, or other dental anomalies may be present.
Other associated features:
- Short stature
- Intellectual disability
- Delayed speech and language development
ADULT syndrome is typically inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. The exact prevalence of ADULT syndrome is unknown, but it is considered to be a rare disorder.
References:
- Sutton VR (2021) "ADULT Syndrome" [cited by 58]
Additional Characteristics
- Delayed speech and language development
- Short stature
- Intellectual disability
- Short fingers and toes
- Skin lesions on hands and feet
- Nail dystrophy or thinning
- Lacrimal duct obstruction
- Tooth agenesis, enamel hypoplasia, or dental anomalies
Signs and Symptoms
ADULT syndrome, also known as Adult Still disease, is a rare type of inflammatory arthritis that affects adults. The symptoms of this condition can vary from person to person, but some common signs include:
- Fevers: Recurring fevers are a hallmark symptom of Adult Still disease [11].
- Rash: A characteristic rash may appear on the skin, often accompanied by other symptoms like joint pain and fever [11].
- Joint pain: Pain and swelling in the joints, particularly in the hands and feet, can occur due to inflammation [11].
In addition to these symptoms, some people with Adult Still disease may experience:
- Shorter-than-average height: Individuals with this condition may have a shorter stature than average [12].
- Thinning and graying hair: Hair loss and premature graying are possible symptoms of ADULT syndrome [12].
- Skin changes: Skin problems, such as acne or eczema, can occur in some cases [12].
It's essential to note that these symptoms may not be present in every individual with Adult Still disease. If you suspect you have this condition, consult a healthcare professional for proper diagnosis and treatment.
References: [11] - May 2, 2023 — Adult Still disease is a rare type of inflammatory arthritis. [12] - Symptoms include shorter-than-average height, thinning and graying hair, skin changes, thin arms and legs, voice changes, and unusual facial features.
Additional Symptoms
- * Fevers
- * Shorter-than-average height
- * Thinning and graying hair
- * Skin changes
- rash
- joint pain
Diagnostic Tests
Diagnostic Tests for Adult Still Disease (AOSD)
Adult Still disease, also known as AOSD, is a rare and complex condition that can be challenging to diagnose. While there is no single test for AOSD, various diagnostic tests can help confirm the diagnosis.
- Blood Tests: Blood tests are an essential part of diagnosing AOSD. The following blood tests can be helpful:
- Complete Blood Count (CBC): May show a high number of white blood cells [3].
- ESR and CRP: Elevated levels of acute phase reactants, such as ESR and CRP, can indicate inflammation [2].
- Serum ferritin: Can help rule out other conditions that may have similar symptoms [2].
- Imaging Tests: Imaging tests, such as X-rays or ultrasound, can reveal damage caused by the disease [1].
- Genetic Tests: Genetic tests on a sample of blood can confirm the diagnosis in some cases [6].
It's essential to note that diagnosing AOSD requires a comprehensive evaluation, including a history of symptoms, physical examination, and ruling out other conditions. While these diagnostic tests can be helpful, there is no single test for AOSD.
References: [1] May 2, 2023 — Imaging tests can reveal damage caused by the disease. [2] Sep 3, 2024 — Blood tests can help rule out other conditions that have similar symptoms. [3] The following blood tests can be helpful in diagnosing adult Still disease: Complete blood count (CBC), may show a high number of white blood cells. [6] Aug 25, 2022 — Genetic
Additional Diagnostic Tests
- Imaging Tests
- Blood Tests
- Genetic Tests
Treatment
Treatment Options for Adult-Onset Still's Disease (AOSD)
Adult-Onset Still's disease (AOSD) is a rare and inflammatory condition that affects adults, causing symptoms such as fever, joint pain, and swelling. The treatment for AOSD typically involves medications to reduce inflammation and manage symptoms.
- Anti-inflammatory drugs: Various types of anti-inflammatory medications are used to treat individuals with AOSD, and affected individuals may respond to therapy differently [2]. These medications can help reduce inflammation and alleviate symptoms.
- Steroids: Some people who have adult Still disease require treatment with steroids, such as prednisone, which can reduce inflammation [1].
- NSAIDs: Aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, are often used first to manage symptoms [6]. Prednisone may be used for more severe cases.
- Other medications: In some cases, other medications like lisdexamfetamine or methylphenidate may be prescribed to help manage symptoms and improve quality of life.
It's essential to note that each person with AOSD may respond differently to treatment, and a healthcare provider will work with the individual to determine the best course of treatment.
Recommended Medications
- NSAIDs
- Other medications
- Steroids
- Anti-inflammatory drugs
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis in ADULT Syndrome
ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome is a rare genetic disorder characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast, and other abnormalities. When symptoms of ADULT syndrome match more than one condition, a differential diagnosis occurs, requiring additional tests to make an accurate diagnosis.
Possible Differential Diagnoses
According to medical literature [1], differential diagnoses for ADULT syndrome may include:
- Ectodermal dysplasia
- Cleft lip/palate syndrome (EEC)
- Other conditions with similar symptoms
It's essential to note that a comprehensive evaluation by a qualified healthcare professional is necessary to determine the correct diagnosis.
Complexity of Differential Diagnosis
The differential diagnosis process can be complex, especially in cases where symptoms overlap between multiple conditions. As stated in [10], "the differential diagnosis of HD-like syndromes is complex and may lead to unnecessary and costly investigations."
In conclusion, a thorough understanding of ADULT syndrome's differential diagnoses requires careful consideration of various medical conditions and their overlapping symptoms.
References: [1] Sutton VR (2021) - Differential diagnosis of ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (EEC) [10] Martino D (2013) - The differential diagnosis of HD-like syndromes is complex and may lead to unnecessary and costly investigations.
Additional Differential Diagnoses
- palate syndrome (EEC)
- Other conditions with similar symptoms
- ectodermal dysplasia
- cleft lip-palate-ectodermal dysplasia syndrome
Additional Information
- relatedICD
- http://example.org/icd10/T46.6X5
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050601
- oboInOwl#hasDbXref
- MIM:103285
- oboInOwl#hasExactSynonym
- acro-dermato-ungual-lacrimal-tooth syndrome
- IAO_0000115
- A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050601
- rdf-schema#label
- ADULT syndrome
- rdf-schema#subClassOf
- t332055
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_641
- owl#annotatedSource
- t332288
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.