Q82.1 - Xeroderma pigmentosum

Approximate Synonyms

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

• Cockayne syndrome
• Disorder of central nervous system due to xeroderma pigmentosum
• Multiple malformation syndrome with senile-like appearance
• Non-neurologic xeroderma pigmentosum
• Pigmented xerodermoid
• Xeroderma pigmentosum
• Xeroderma pigmentosum and Cockayne syndrome complex
• Xeroderma pigmentosum, group A
• Xeroderma pigmentosum, group B
• Xeroderma pigmentosum, group C
• Xeroderma pigmentosum, group D
• Xeroderma pigmentosum, group E
• Xeroderma pigmentosum, group F
• Xeroderma pigmentosum, group G
• Xeroderma pigmentosum, variant form

Clinical Information

• Xeroderma Pigmentosum-. a rare, pigmentary, and atrophic autosomal recessive disease. it is manifested as an extreme photosensitivity to ultraviolet rays as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged dna.
• Xeroderma Pigmentosum Group A Protein-. a zinc finger motif protein that recognizes and interacts with damaged dna. it is a dna-binding protein that plays an essential role in nucleotide excision repair. mutations in this protein are associated with the most severe form of xeroderma pigmentosum.
• Xeroderma Pigmentosum Group D Protein-. a dna helicase that is a component of transcription factor tfiih. it plays an essential role in nucleotide excision repair, and mutations in this protein are associated with xeroderma pigmentosum.
• Cockayne Syndrome-. a syndrome characterized by multiple system abnormalities including dwarfism; photosensitivity disorders; premature aging; and hearing loss. it is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled dna repair processes. cockayne syndrome is classified by the severity and age of onset. type i (classical; csa) is early childhood onset in the second year of life; type ii (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum; xp) is late childhood onset with mild symptoms.

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)

Q82.1 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

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• 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

Xeroderma pigmentosum

Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum.

People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer. Without sun protection, about half of children with this condition develop their first skin cancer by age 10. Most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on the face, lips, and eyelids. Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer, including brain tumors. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer.

The eyes of people with xeroderma pigmentosum may be painfully sensitive to UV rays from the sun. If the eyes are not protected from the sun, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of eye cancer, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision.

About 30 percent of people with xeroderma pigmentosum develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time.

Researchers have identified at least eight inherited forms of xeroderma pigmentosum: complementation group A (XP-A) through complementation group G (XP-G) plus a variant type (XP-V). The types are distinguished by their genetic cause. All of the types increase skin cancer risk, although some are more likely than others to be associated with neurological abnormalities.

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)