What is Darier's disease, and what are its typical characteristics?

Darier's disease is a genetic skin disorder. It is typically caused by a mutation in the ATP2A2 gene, which can lead to the formation of lesions on the skin. This specific case highlights that the disease can sometimes appear later in life, challenging the typical presentation. This condition involves the appearance of livid to brownish papules and plaques. The specific case is classified as a type 1 segmental presentation. The ATP2A2 gene mutation leads to the lesions.

What is segmental Darier's disease, and how does it relate to genetic mosaicism?

Segmental Darier's disease is a variant of Darier's disease caused by genetic mosaicism. This means that the mutation in the ATP2A2 gene is present in some skin cells but not others. The distribution of lesions in segmental Darier's disease follows Blaschko lines, which are patterns of skin cell development. The clinical presentation aligned with type 1 segmental Darier's disease. These patterns are critical in distinguishing it from conditions like herpes zoster, which follow a different distribution.

Why is the late-onset presentation of Darier's disease significant in this particular case?

The significance of the atypical presentation in the 72-year-old woman is that it underscores the importance of considering rare diagnoses, even in older patients. The initial symptoms and the patient's concern that it might be herpes zoster highlight the need for careful examination and accurate diagnosis. Because it can sometimes mimic other conditions, it's crucial to look beyond the usual suspects when diagnosing skin conditions, especially when the presentation is atypical. Further, this case challenges the common assumption that Darier's disease always manifests earlier in life.

How do you differentiate between Darier's disease and herpes zoster?

Distinguishing between Darier's disease and herpes zoster is vital for accurate diagnosis and treatment. While Darier's disease lesions follow Blaschko lines, herpes zoster follows a metameric distribution, which corresponds to sensory nerve innervation. In this case, the absence of pain and the distribution of the lesions along Blaschko lines helped rule out herpes zoster. The clinical presentation aligned with type 1 segmental Darier's disease, which is a very important distinction for the patient.

What role does genetic mosaicism play in segmental Darier's disease?

Genetic mosaicism plays a key role in segmental Darier's disease. It means that the mutation in the ATP2A2 gene is present in only some of the patient's cells. In the specific case of type 1 segmental Darier's disease, the genetic mutations are only found in the affected skin areas. This mosaic pattern explains why the lesions appear in segments along Blaschko lines. Type 2 segmental Darier's disease is rare and the genetic background is still speculative.

Illustration of Blaschko lines on skin, representing segmental Darier's disease.

Darier's Disease: When Skin Conditions Emerge Later in Life

Soraya Malik in Health & Wellness December 2025 • 4 min read.

"Unveiling a Rare Case of Late-Onset Segmental Darier's Disease and Its Implications"

A recent case highlights the complexities of diagnosing skin conditions, particularly when they present atypically. This article explores the instance of a 72-year-old woman who developed segmental Darier's disease, a rare genetic disorder that usually appears much earlier in life. Her experience underscores the importance of considering less common diagnoses, even in older patients, and understanding the nuances of genetic mosaicism in skin diseases.

The woman sought medical advice because she was concerned that her lesions might be related to a recurrence of herpes zoster (shingles). She described her symptoms as slightly stinging to itchy sensations without pain, which differed from her previous experience with shingles. Adding to the complexity, similar lesions had appeared on her chest in the past, often triggered by stressful life events, but had resolved with herpes zoster treatment. This case challenges assumptions and highlights the need for careful examination and accurate diagnosis.

Upon examination, the patient presented with livid to brownish papules and plaques, some oozing or crusted, confined to a segment on the right side of her chest, lower abdomen, and mons pubis. These lesions did not cross the midline of her body. A histopathological examination of affected skin revealed features consistent with Darier's disease like acantholytic keratinocytes, dyskeratotic cells, and suprabasal clefts.

Segmental Darier's Disease: Understanding the Genetics and Presentation

Illustration of Blaschko lines on skin, representing segmental Darier's disease.

Darier's disease is typically caused by a mutation in the ATP2A2 gene. Genetic mosaicism, where some cells have the mutation and others don't, can lead to segmental presentations of the disease following Blaschko lines – invisible patterns of skin cell development. Segmental Darier's disease is divided into two types:

Type 1 segmental Darier's disease involves distinct lesions distributed along Blaschko lines on a background of normal skin. Genetic mutations in the ATP2A2 gene are found only in the affected skin areas. This type is far more common than type 2.

Type 2 is rare.
Type 2 presents with segmental areas of more severe Darier's disease on a background of milder, non-segmental Darier's disease.
Genetic background of type 2 is still speculative.

The distribution pattern is vital for differentiation. While lesions follow Blaschko lines in Darier's disease (V-shaped on the upper spine, S-shaped on the abdomen, and perpendicular on the extremities), herpes zoster follows a metameric distribution corresponding to sensory nerve innervation from a single dorsal root. In this particular case, the clinical presentation aligned with type 1 segmental Darier's disease.

Key Takeaways and Diagnostic Considerations

This case serves as a reminder that Darier's disease, although typically presenting in adolescence or young adulthood, can manifest later in life. The possibility of late-onset segmental Darier's disease should be considered, even in older patients, especially when the presentation is atypical and might mimic other conditions like herpes zoster.

A careful clinical examination, histopathological analysis, and an understanding of Blaschko line patterns are essential for accurate diagnosis. While a history of shingles might initially lead clinicians down one path, recognizing the distinct features of segmental Darier's disease is crucial for appropriate management and patient care.

The reasons for the unusually late onset in this case remain speculative. It's possible the patient had mild, previously unnoticed lesions that only became significant later in life. This highlights the importance of patient history and thorough investigation, especially in cases of rare or atypical presentations of common diseases.