Phakomatoses, not elsewhere classified
Chapter 17:Congenital malformations and chromosomal abnormalities
ICD-10 Q85 is a billable code used to indicate a diagnosis of phakomatoses, not elsewhere classified.
Phakomatoses are a group of congenital disorders characterized by the presence of skin lesions and other abnormalities that can affect multiple organ systems. These conditions often involve neurocutaneous syndromes, where the skin and nervous system are both affected. Common examples include neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. Patients may present with a variety of symptoms, including café-au-lait spots, hamartomas, and neurological deficits. The complexity of these conditions arises from their variable expressivity and the potential for associated systemic complications. Accurate diagnosis often requires a multidisciplinary approach, including dermatological, neurological, and genetic evaluations. The management of phakomatoses is tailored to the individual, focusing on symptomatic treatment and monitoring for potential complications such as malignancy or developmental delays.
Detailed growth and developmental assessments, family history, and physical examination findings.
A child presenting with café-au-lait spots and developmental delays, requiring evaluation for neurofibromatosis.
Consideration of age-related manifestations and the need for ongoing monitoring of developmental milestones.
Genetic testing results, family pedigree, and detailed descriptions of phenotypic features.
Referral for genetic counseling due to a family history of tuberous sclerosis.
Importance of genetic counseling for families and the implications of genetic findings on management.
Used for follow-up visits in patients with phakomatoses.
Document history of present illness, review of systems, and physical exam findings.
Pediatricians should focus on developmental assessments, while geneticists should emphasize genetic counseling.
Common manifestations include skin lesions such as café-au-lait spots, neurofibromas, and hamartomas, as well as neurological symptoms like seizures and developmental delays.
