A 16-year-old boy with developmental delay and intellectual disability developed dramatic chronic wrinkling of his scalp over a year ago. The lesions were persistent but not symptomatic. What's the diagnosis?
A 16-year-old boy with developmental delay and intellectual disability developed dramatic chronic wrinkling of his scalp over a year ago. The lesions were persistent but not symptomatic (Figure).
What’s the diagnosis?
Cutis verticis gyrata
The lesions initially presented a year ago and had not changed in severity. There were 9 symmetrical gyri oriented anteroposteriorly from the vertex to the frontal scalp bilaterally. Upon examination, there was no crusting, flaking, secretions, pain, or erythema suggestive of an infectious process. The scalp was soft to palpation and the ridges did not resolve with traction.
The patient and his caregiver denied ophthalmic complaints, such as cataracts and strabismus. Additionally, the patient denied seborrheic hyperplasia, hyperhidrosis, digital clubbing, and fatigue. There was no family history of scalp folding.
The differential diagnosis for scalp thickening includes cutis verticis gyrata (CVG) and lipedematous scalp (LS). CVG resembles sulci and gyri of the brain, which was consistent with the patient’s presentation. LS can also cause thickening of the scalp due to the proliferation of subcutaneous tissue; however, the average age of onset for LS is 42 years,1 making this diagnosis unlikely.
The patient’s clinical findings of gyri and sulci oriented anteroposteriorly, male sex, age of onset, and intellectual delay were most consistent with primary nonessential CVG.
Cutis verticis gyrata
Cutis verticis gyrata is a scalp condition characterized by ridges and burrows that resemble the cerebral cortex of the brain. The condition can be acquired or congenital and is further subdivided into primary essential, primary nonessential, and secondary (Table). The prevalence of CVG is 1 in 100,000 males and 0.026 in 100,000 females.2 CVG typically develops around puberty in male patients. Additionally, the prevalence is higher among patients with intellectual abnormalities, although CVG itself does not cause intellectual disabilities.3
Primary essential CVG manifests as isolated scalp thickening and is not associated with other conditions or underlying causes.4 However, primary nonessential CVG occurs in association with neurologic or ophthalmologic irregularities.5 Most primary forms arise between puberty and the age of 30.6
The pathophysiological mechanism of CVG is unknown; however, because CVG manifests in males around the time of puberty, an endocrine mechanism has been proposed. Previous research using psychiatric patients showed that, compared with control subjects, CVG patients had decreased testosterone levels, whereas cortisol, thyroid, sex, and growth hormones were all within normal ranges.7
Histologically, primary CVG shows normal scalp features with increased density and size of collagen and the dermal matrix.8 Biopsy of the scalp is not necessary for the diagnosis of primary CVG in pediatric patients if their gyri are oriented symmetrically anteriorly to posteriorly. In the absence of neurologic or ophthalmologic symptoms, these patients can be diagnosed with primary essential CVG. Similarly, in association with additional neurological or ophthalmologic findings, these patients can be diagnosed with nonessential CVG. Treatment for primary CVG is individualized, varying from good scalp hygiene to cosmetic surgical reductions.
Secondary CVG manifests as the result of an underlying condition.9 The instigating conditions are diverse and include neoplasms, systemic disease, autoimmune disorders, and genetic disorders. Therefore, patients will have additional systemic findings or complaints, and laboratory studies and imagining are required for these patients. Histologically, secondary CVG often shows pathognomonic findings for the underlying disorder and treatment is aimed at resolving the underlying condition.
In cases of congenital CVG, prompt labs and imaging for Turner and Noonan syndromes are needed. Additionally, a biopsy is useful to evaluate for cerebriform intradermal nevus (CIN) or giant congenital blue nevi. In the case of Turner and Noonan syndromes, congenital lymphedema has been proposed as part of the pathogenesis of congenital CVG. If CIN is diagnosed, the literature suggests that these lesions be excised because CIN has a 4.2% risk of evolving into melanoma.10 Congruently, giant congenital blue nevi should also be excised.11
CVG in isolation
Organized, symmetrical folding
Associated with ophthalmic and neurological conditions
Possible endocrine mechanism
Organized, symmetrical folding
Result of underlying condition: inflammatory and systemic conditions, neoplasms
Males and females equally affected
Disorganized, asymmetrical folding
CVG, cutis verticis gyrata.
In addition to the pubertal onset of scalp invaginations anteroposteriorly, the patient had a history of developmental and intellectual delay. However, he did not present with any other systemic findings suggestive of underlying inflammatory or systemic processes. Laboratory evaluation was normal and he lacked specific associated genetic disorders. Therefore, the patient was diagnosed with primary nonessential CVG. Good scalp hygiene was discussed with the patient and his caregiver, as the furrows can be difficult to clean, posing a risk for infection. Surgical removal of the lesion was discussed for cosmetic concerns but not pursued at this time.