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piebaldism

ICD-10 Codes

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Description

Signs and Symptoms

Piebaldism is a rare inherited condition characterized by white patches on the skin and hair, among other symptoms. The following are some common signs and symptoms associated with piebaldism:

  • White forelock: A patch of white hair directly above the forehead is a classic symptom of piebaldism [4][7].
  • Absence of pigmentation: The skin beneath the forelock may not be pigmented, and there may be areas of depigmentation on the face, head, or body [11][12].
  • Hyperpigmentation: In some cases, hyperpigmentation (excessive pigmentation) can be seen around the boundary of depigmented regions [11].
  • White patches on skin: Piebaldism is characterized by white patches on the skin, which may appear as a result of the absence of melanocytes in certain areas [6][13].
  • Hair growth abnormalities: Hair growth above the brow may be absent or abnormal in people with piebaldism [11].
  • Other symptoms: Some individuals with piebaldism may experience other symptoms such as intestinal issues, motor difficulties, and ocular defects (e.g., Rieger anomaly) [5][9].

It's essential to note that the severity and presentation of these symptoms can vary from person to person. If you suspect someone has piebaldism, it's crucial to consult a dermatologist or clinical genetic specialist for an accurate diagnosis and evaluation [2].

Additional Symptoms

  • White forelock
  • Absence of pigmentation
  • White patches on skin
  • Hair growth abnormalities
  • Other symptoms (intestinal issues, motor difficulties, and ocular defects)
  • hyperpigmentation

Diagnostic Tests

Diagnostic Tests for Piebaldism

Piebaldism can be diagnosed through a combination of clinical evaluation and genetic testing.

  • Clinical Evaluation: The diagnosis of piebaldism is typically made based on the presence of characteristic white patches or hair loss, which are usually present at birth. A healthcare provider may perform a physical examination to confirm the presence of these symptoms.
  • Genetic Testing: Genetic testing can be used to confirm the diagnosis of piebaldism and rule out other conditions that may have similar symptoms. This type of testing involves analyzing DNA from peripheral blood or other tissues for mutations in the KIT gene, which is responsible for causing piebaldism in most cases.
  • Skin Biopsy: A skin biopsy can be performed to confirm the absence of melanocytes in affected areas of the skin. However, this test is not typically necessary for diagnosis and may only be used in certain cases where the diagnosis is unclear.

Other Diagnostic Tests

In some cases, additional tests may be performed to rule out other conditions that may have similar symptoms to piebaldism. These tests may include:

  • Blood Test: A blood test can be used to exclude other conditions such as leprosy or syphilis.
  • Imaging Studies: Imaging studies such as X-rays or CT scans may be used to evaluate the extent of skin involvement and rule out other conditions.

References

  • [1] Genetic testing on peripheral blood can confirm the diagnosis of piebaldism. (Source: #1)
  • [2] A skin biopsy from the leukoderma in patients with piebaldism demonstrates complete lack of melanocytes and melanin pigment. (Source: #1)
  • [3] Diagnosis is clinical and can be confirmed with molecular analysis of the KIT gene. Skin biopsy of depigmented areas is not necessary but when performed reveals absence of melanocytes. (Source: #9)

Treatment

Differential Diagnosis

The differential diagnosis of piebaldism includes several conditions that present with similar clinical manifestations. Some of these conditions are:

  • Waardenburg syndrome: This is a major entity in the differential diagnosis of piebaldism, and patients should be examined for evidence of facial abnormalities, hearing loss, and other systemic complications [4][5].
  • Vitiligo: While vitiligo can present with depigmented skin lesions, it is typically acquired later in life and tends to progress, unlike piebaldism which is a congenital condition [2][6].
  • Tuberous sclerosis: This genetic disorder can also present with localized loss of skin or hair pigmentation, but it is associated with systemic complications such as seizures, intellectual disability, and organ tumors [5].
  • Nevus depigmentosus: This is a congenital condition characterized by a single patch of depigmented skin, which may be similar to the isolated leukoderma seen in piebaldism [13].
  • Oculocutaneous albinism (OCA): While OCA presents with complete loss of pigmentation, it typically affects multiple body parts and is not limited to the ventral midline pattern seen in piebaldism [13].

It's worth noting that the differential diagnosis for piebaldism can be complex, and a thorough examination and diagnostic workup are necessary to rule out these conditions.

References:

[2] Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical hypopigmented or depigmented macules. [4] Differential Diagnosis. Disorders with similar clinical presentations are vitiligo and Waardenburg syndrome. Vitiligo is acquired later in life, tends to progress, and has a different distribution. [5] Piebaldism (OMIM 172800) presents with a characteristic pattern of white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. The differential diagnosis includes WS, vitiligo, nevus depigmentosus, oculocutaneous albinism (OCA), pigmentary mosaicism and NF1. [6] Piebaldism is an autosomal dominant condition in which melanocyte development is disrupted, resulting in patches of hair and skin, ... If associated changes are a feature of the disease, differential diagnosis should focus on the initial pathologic changes (Box 11.7).

Additional Information

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This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
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