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When she was 3 years old, a lesion appeared on this child’s face. It was small and caused little to no concern for several years. The child is now 9, and about a year ago, the lesion began to enlarge, ultimately reaching its present size.
First thought to be a pimple, the lesion was later deemed to be “cystic in nature” by another provider. By that point, however, the lesion was quite prominent—to the extent that it intrudes into the patient’s visual field. Perhaps more significantly for someone her age, it has prompted looks and comments that make her uncomfortable.
Fortunately, the lesion causes no pain or physical discomfort, and no other lesions have manifested. The child’s health is generally excellent.
EXAMINATION
A firm nodule, measuring 1.0 by 0.8 cm, is located on the patient’s left upper nasal sidewall. It stands out on an otherwise pristine face free of other blemishes. The lesion is predominantly red, with faint epidermal disturbance in the center. No punctum is appreciated. The lesion is quite firm on palpation, with just a hint of fluctuance but no tenderness or increased warmth.
Excision is clearly indicated; however, the wait for an appointment with a plastic surgeon is currently weeks to months. So an attempt is made to reduce the prominence of the lesion through incision and drainage, which also offers an opportunity to visualize its contents and possibly confirm a diagnosis. The lesion is opened with a #11 blade, and copious amounts of whitish, grainy material is digitally extruded.
What’s the diagnosis?
DISCUSSION
The contents are consistent with those of a somewhat unusual lesion, commonly called pilomatricoma. It is also known as calcifying epithelioma of Malherbe and pilomatrixoma.
This type of cyst is derived from the hair matrix and is commonly seen on the face, neck, scalp, and arms of children and young adults. This patient’s lesion was atypical in its prominence and erythema, at odds with the firm bluish intradermal papule or nodule usually seen in these cases. But the unique contents established the diagnosis with considerable certainty.
All that remained was the excision—which, given the patient’s age and the cosmetic concerns, would require above-average surgical skills. Once removed, the sample will be sent for pathologic examination, which should show anucleate squamous cells (“ghost cells”), benign viable squamous cells with a lining consisting of basaloid cells. Calcifications with foreign body giant cells account for the pathognomic white flecks seen in the extruded material.
Pilomatricoma’s cause is debatable, but it appears to involve increased levels of beta catenin caused by mutations of the APC gene. This effectively inhibits apoptosis, leading to focal increases in cell growth.
The differential for this type of lesion includes simple acne cyst (unlikely in such a young child), carbuncle (which would have been quite painful and full of pus), or even squamous cell carcinoma.
TAKE-HOME LEARNING POINTS
- Pilomatricomas are benign cysts usually seen on the face, neck, scalp, and arms of children and young adults.
- The typical pilomatricoma (sometimes called calcifying epithelioma of Malherbe) is an intradermal papule or nodule, often displaying a faintly bluish color, that is relatively firm on palpation.
- The contents of a pilomatricoma usually consist of whitish curds or flecks of material that represent calcified tissue mixed with foreign body giant cells.
- Pilomatricoma has little or no malignant potential but is often cosmetically significant.
When she was 3 years old, a lesion appeared on this child’s face. It was small and caused little to no concern for several years. The child is now 9, and about a year ago, the lesion began to enlarge, ultimately reaching its present size.
First thought to be a pimple, the lesion was later deemed to be “cystic in nature” by another provider. By that point, however, the lesion was quite prominent—to the extent that it intrudes into the patient’s visual field. Perhaps more significantly for someone her age, it has prompted looks and comments that make her uncomfortable.
Fortunately, the lesion causes no pain or physical discomfort, and no other lesions have manifested. The child’s health is generally excellent.
EXAMINATION
A firm nodule, measuring 1.0 by 0.8 cm, is located on the patient’s left upper nasal sidewall. It stands out on an otherwise pristine face free of other blemishes. The lesion is predominantly red, with faint epidermal disturbance in the center. No punctum is appreciated. The lesion is quite firm on palpation, with just a hint of fluctuance but no tenderness or increased warmth.
Excision is clearly indicated; however, the wait for an appointment with a plastic surgeon is currently weeks to months. So an attempt is made to reduce the prominence of the lesion through incision and drainage, which also offers an opportunity to visualize its contents and possibly confirm a diagnosis. The lesion is opened with a #11 blade, and copious amounts of whitish, grainy material is digitally extruded.
What’s the diagnosis?
DISCUSSION
The contents are consistent with those of a somewhat unusual lesion, commonly called pilomatricoma. It is also known as calcifying epithelioma of Malherbe and pilomatrixoma.
This type of cyst is derived from the hair matrix and is commonly seen on the face, neck, scalp, and arms of children and young adults. This patient’s lesion was atypical in its prominence and erythema, at odds with the firm bluish intradermal papule or nodule usually seen in these cases. But the unique contents established the diagnosis with considerable certainty.
All that remained was the excision—which, given the patient’s age and the cosmetic concerns, would require above-average surgical skills. Once removed, the sample will be sent for pathologic examination, which should show anucleate squamous cells (“ghost cells”), benign viable squamous cells with a lining consisting of basaloid cells. Calcifications with foreign body giant cells account for the pathognomic white flecks seen in the extruded material.
Pilomatricoma’s cause is debatable, but it appears to involve increased levels of beta catenin caused by mutations of the APC gene. This effectively inhibits apoptosis, leading to focal increases in cell growth.
The differential for this type of lesion includes simple acne cyst (unlikely in such a young child), carbuncle (which would have been quite painful and full of pus), or even squamous cell carcinoma.
TAKE-HOME LEARNING POINTS
- Pilomatricomas are benign cysts usually seen on the face, neck, scalp, and arms of children and young adults.
- The typical pilomatricoma (sometimes called calcifying epithelioma of Malherbe) is an intradermal papule or nodule, often displaying a faintly bluish color, that is relatively firm on palpation.
- The contents of a pilomatricoma usually consist of whitish curds or flecks of material that represent calcified tissue mixed with foreign body giant cells.
- Pilomatricoma has little or no malignant potential but is often cosmetically significant.
When she was 3 years old, a lesion appeared on this child’s face. It was small and caused little to no concern for several years. The child is now 9, and about a year ago, the lesion began to enlarge, ultimately reaching its present size.
First thought to be a pimple, the lesion was later deemed to be “cystic in nature” by another provider. By that point, however, the lesion was quite prominent—to the extent that it intrudes into the patient’s visual field. Perhaps more significantly for someone her age, it has prompted looks and comments that make her uncomfortable.
Fortunately, the lesion causes no pain or physical discomfort, and no other lesions have manifested. The child’s health is generally excellent.
EXAMINATION
A firm nodule, measuring 1.0 by 0.8 cm, is located on the patient’s left upper nasal sidewall. It stands out on an otherwise pristine face free of other blemishes. The lesion is predominantly red, with faint epidermal disturbance in the center. No punctum is appreciated. The lesion is quite firm on palpation, with just a hint of fluctuance but no tenderness or increased warmth.
Excision is clearly indicated; however, the wait for an appointment with a plastic surgeon is currently weeks to months. So an attempt is made to reduce the prominence of the lesion through incision and drainage, which also offers an opportunity to visualize its contents and possibly confirm a diagnosis. The lesion is opened with a #11 blade, and copious amounts of whitish, grainy material is digitally extruded.
What’s the diagnosis?
DISCUSSION
The contents are consistent with those of a somewhat unusual lesion, commonly called pilomatricoma. It is also known as calcifying epithelioma of Malherbe and pilomatrixoma.
This type of cyst is derived from the hair matrix and is commonly seen on the face, neck, scalp, and arms of children and young adults. This patient’s lesion was atypical in its prominence and erythema, at odds with the firm bluish intradermal papule or nodule usually seen in these cases. But the unique contents established the diagnosis with considerable certainty.
All that remained was the excision—which, given the patient’s age and the cosmetic concerns, would require above-average surgical skills. Once removed, the sample will be sent for pathologic examination, which should show anucleate squamous cells (“ghost cells”), benign viable squamous cells with a lining consisting of basaloid cells. Calcifications with foreign body giant cells account for the pathognomic white flecks seen in the extruded material.
Pilomatricoma’s cause is debatable, but it appears to involve increased levels of beta catenin caused by mutations of the APC gene. This effectively inhibits apoptosis, leading to focal increases in cell growth.
The differential for this type of lesion includes simple acne cyst (unlikely in such a young child), carbuncle (which would have been quite painful and full of pus), or even squamous cell carcinoma.
TAKE-HOME LEARNING POINTS
- Pilomatricomas are benign cysts usually seen on the face, neck, scalp, and arms of children and young adults.
- The typical pilomatricoma (sometimes called calcifying epithelioma of Malherbe) is an intradermal papule or nodule, often displaying a faintly bluish color, that is relatively firm on palpation.
- The contents of a pilomatricoma usually consist of whitish curds or flecks of material that represent calcified tissue mixed with foreign body giant cells.
- Pilomatricoma has little or no malignant potential but is often cosmetically significant.
