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Congenital Autosomal Dominant Indifference to Pain
Congenital Autosomal Dominant Analgesia

Presentation

There are few conditions that may be confused with CIPA due to pain insensitivity at initial presentation. The congenital indifference to pain presents with loss of pain sensitivity but without dysautonomic symptoms. [apicareonline.com]

The nonunion of the proximal right ulna was left alone, as she did not present with any complaints. [ijoonline.com]

Rarely, it also can present with features of impaired immune response, proteinuria, renal failure, anemia, hyperkeratosis, dry skin, and early primary tooth loss. [e-ijd.org]

The typical and common feature present in infantile patients with HSAN type IV is a decubital ulcer on the ventral surface of the tongue. [edoj.org.eg]

The abnormality in skin growth and hydration called ichthyosis may present with symptoms at birth or in early childhood. [medical-dictionary.thefreedictionary.com]

Workup

Serum

  • Microcytic Anemia

    1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia [preventiongenetics.com]

Treatment

Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate. [books.google.com]

The textbookprovides an evidence-based approach to testing, differential diagnosis, and treatment, and should serveas a trusted resource for healthcare professionals confronting the many manifestations of peripheralneuropathy in clinical practice. [books.google.de]

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. [jamaicahospital.org]

[…] and prognosis No specific treatment is available for CIP 1,7. [radiopaedia.org]

Treatment complications are very common in these patients and range from infection to wound breakdown to failure of fixation. [ijoonline.com]

Prognosis

[…] reported the following features 9 : acro-osteolysis within the first year of life (100%) limb fractures with prominent periosteal reaction and exuberant callus (100%) osteomyelitis (50%) brain volume loss with mild ventriculomegaly (50%) Treatment and prognosis [radiopaedia.org]

The prognosis for independent function depends on the degree of disease expression and the ability to control the secondary clinical problems. Hereditary sensory and autonomic neuropathy type IV is second most common disorder. [ijpd.in]

The prognosis for independent function depends on the degree of disease expression and the ability to control the secondary clinical problems. Prognosis and goals There are a number of hereditary and sensory and autonomic neuropathies (HSAN). [ojrd.biomedcentral.com]

Further prognosis will be based on increased understanding of specific gene actions that will lead to definitive therapies. Diagnosis and management of HSAN type V is a great challenge to the oral health care provider. [contempclindent.org]

Prognosis This condition requires continuous care throughout a lifetime. Properly treated, in most cases it is a cosmetic problem. There are a small number of lethal forms, such as harlequin fetus. [medical-dictionary.thefreedictionary.com]

Etiology

The etiology and pathogenesis of CIP depends on the specific type of HSAN. For example: HSAN2D (channelopathy-associated congenital insensitivity to pain) : patients have homozygous mutations in the SCN9A gene 4,7. [radiopaedia.org]

[…] upper cervical complex or craniovertebral junction at increased risk. 221 The relationship between Down syndrome and congenital laxity of the transverse portion of the cruciate ligament of C1 is well known, and is generally considered to be the primary etiology [radiologykey.com]

Epidemiology

Till date only one epidemiological survey has been conducted on HSAN types IV and V in Japan in which questionnaires reported from 105 institutes were evaluated. [contempclindent.org]

Epidemiology HSAN IV is extremely rare among most populations with the exception of the Japanese and Israeli-Bedouins. The prevalence is unknown, but it was seen the disorder is more diffused in cultures in which intermarriage is accepted. [flipper.diff.org]

Pathophysiology

Its pathophysiology has not been established. It seems that patients have a life span close to normal although unnoticed visceral problems are a major concern. [link.springer.com]

The molecular pathophysiology of CIPA can provide important clues about the biological processes of pain in our species and insights into the mechanisms that underlie persistent or chronic pain syndromes. 2 In conclusion, we presented novel inherited [journals.lww.com]

Prevention

Modified bite guard was given to the patient to prevent further self-mutilating injuries to the tongue. [contempclindent.org]

As a measure of prevention of further fractures, we advised her to use preventive splints during any vigorous activity. At 1-year follow-up, the patient was perfectly normal with no signs and symptoms around knee and normal physeal growth. [jocr.co.in]

Endorphins are molecules in your body that when released, prevent nerve cells from releasing more pain signals. [thetartan.org]

Braces may be required on the ankles to prevent injury to these weight bearing joints. Some children will require smoothing of the teeth or extraction to prevent self-mutilation of the tongue and lips. [ijpd.in]

Common practices can be: • prevention of self-mutilation by smoothing or extracting teeth; • prevention of debilitating orthopedic problems by daily evaluation for early signs of unrecognized injury; • prevention of neurotrophic keratitis with tarsorrhaphy [flipper.diff.org]

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