What Caused These Scalp Changes?

Patient presentation

A healthy 18-year-old male presented to our clinic complaining of prominent skin folds involving his scalp, which he noticed after getting a very short haircut. The patient was otherwise asymptomatic with no complaints of headache, visual change or increase in shoe or hat size. Of note, the patient has two maternal uncles with similar scalp findings.

On physical exam, the patient appeared well and was well developed, with no evidence of frontal bossing. Examination of the patient’s scalp revealed deep longitudinal furrows localized to the vertex. In addition, the patient had mild acne and keratosis pilaris. Otherwise, the exam was unremarkable.

A complete blood cell count with differential, comprehensive metabolic panel, prolactin level, testosterone level, insulin-like growth factor I level, free thyroxine level, TSH and urinalysis were all within normal range. An MRI of the brain and pituitary gland with and without contrast showed no evidence of abnormal intracranial signal, no mass effect or midline shift, no extra-axial fluid collections, no sellar or suprasellar mass, and the optic chiasm was within normal limits.

What is Your Diagnosis?

Diagnosis: Cutis verticis gyrata

Cutis verticis gyrata (CVG) describes a morphological syndrome in which there is hypertrophy and folding of the skin of the scalp creating a gyrate or cerebriform appearance.¹ CVG was first cited by Alibert in 1837² and was described by Robert in 1843.³ Unna introduced the term cutis verticis gyrata in 1907.⁴ In 1953, Polan and Butterworth classified CVG into primary and secondary forms.⁵ The classification was later modified by Garden and Robinson, who subdivided the primary form into primary essential CVG, in which no other abnormalities are identified, and primary non-essential CVG, which is associated with a wide range of mental, cerebral, and ophthalmological abnormalities.³

Epidemiology

CVG is rare in the general population, with an estimated prevalence of 1 in 100,000 men and 0.026 in 100,000 women.⁶ The reported higher frequency in men, however, may be due to easier detection in patients with short hair. CVG occurs in all races: white, Asian, black and Mexican-Indian.⁷ Many patients with CVG are of normal intelligence; however, its prevalence is greater in patients with intellectual disabilities. The prevalence of CVG in institutionalized psychiatric patients has been reported from 0.2% to 12.5%.⁶

Primary and Secondary CVG

Primary CVG occurs without underlying soft-tissue abnormalities and is often associated with neuropsychiatric conditions. Primary CVG almost always occurs in males, with a male to female ratio of 5:1 or 6:1.^1,7 The etiology of primary CVG is unknown. Most cases appear to be sporadic, although familial forms have been reported in the context of complex syndromes.⁸

Skin changes may appear in late childhood or during puberty, and usually appear before age 30; hormonal changes have been suggested as a cause of CVG.⁷

Primary CVG has a high frequency of associated neurologic abnormalities, including seizure disorder, microcephaly and mental retardation. There is also an increased frequency of ocular abnormalities, including strabismus, cataract, nystagmus and keratoconus.⁷

Secondary CVG occurs as a result of a systemic illness or local process of the scalp. In contrast to primary CVG, secondary CVG does not have associated neurologic manifestations. Secondary CVG has been associated with a wide range of underlying causes that can result in the characteristic folds of CVG, such as inflammatory diseases of the scalp, such as eczema, psoriasis, folliculitis, impetigo, erysipelas and pemphigus.⁶ Local neoplasms of the scalp, including congenital cerebriform intradermal nevus, neurofibromas, fibromas, and other hamartomas have also been implicated.^6,9 Secondary CVG is also associated with endocrine disorders such as acromegaly, cretinism, myxedema, insulin resistance and Turner’s syndrome.^1,8

Neonatal CVG has been reported in a case series of Turner’s syndrome, always in the context of congenital lymphedema. These cases are of interest because they implicate lymphedema in the pathogenesis.¹⁰

CVG also occurs in genetically inherited syndromes, such as pachydermoperiostosis, an idiopathic form of hypertrophic osteoarthropathy inherited as an autosomal dominant trait with variable expression.^6,8

Clinicopathologic Characteristics

In primary CVG, the histology usually appears normal, whereas the histology in the secondary form depends on the nature of the underlying pathology. Biopsies of the scalp may reveal a thickened dermis with possible sebaceous hyperplasia, with or without collagen excess.^7,8 In primary CVG, the characteristic skin folds are oriented in the anterior-posterior direction and are generally symmetric over both sides of the skull. In secondary CVG, the folds are more variable and usually do not run in the sagittal direction.^6,7

Differential Diagnosis

The differential diagnosis of CVG includes nevus sebaceous, pilar cyst, lipoma, nevus of Ota and cerebriform nevus. Nevus sebaceous is a papillated growth with a nevoid appearance and usually develops earlier in life than CVG. Pilar cysts and lipomas may form on the scalp, but are typically localized masses that do not cause uniform changes to the entire scalp. Nevus of Ota is a congenital hyperpigmented patch, usually found in the ophthalmomaxillary region. Cerebriform nevus appears at birth and does not present on the entire scalp.⁸ Other differential diagnoses are summarized in Table 1.

Table 1

Differential Diagnosis of Cutis Verticis Gyrata

Nevus Sebaceous
Pilar Cyst
Lipoma
Nevus of Ota
Cerebriform Nevus
Cutis Laxa (Elastolysis)
Cylindroma
Pachydermoperiostosis

Treatment

In the majority of cases of CVG, treatment is symptomatic. Patients should be educated in scalp hygiene
to avoid accumulation of skin debris and secretions in the furrows, which may cause an unpleasant smell and
pruritus.^1,11

Plastic surgery may be performed for cosmetic reasons. The choice of surgical repair depends on the size and location of the lesion, the underlying disorder, and patient preference. Surgical techniques are available for the treatment of CVG, including total resection of the lesion and grafting, placement of a skin expander on the healthy area and grafting, and partial resection of the most prominent portion of the lesion.^6,11 Total resection of the lesion causes irreversible alopecia, and skin expanders may not be enough to cover all of the affected areas. Therefore, it is recommended that small lesions be excised and closed primarily, while tissue expanders are an effective method of treating larger areas of CVG.^6,11 Forehead lifting has also been described as a technique for treating CVG of the frontal region.¹²

Our patient required no specific treatment at the time of his visit, and was not a surgical candidate due to the extensive involvement of his scalp. Clinical photographs will be used to follow any progression of the CVG. After a thorough medical and imaging work-up, the CVG appears to be primary in nature with no evidence of an underlying endocrine disease.

A Typically Benign Prognosis

Although CVG is disfiguring, it has a benign prognosis. No malignant transformations of scalp tissue or intracranial structures have been reported.^6,7

The only exception is the association of secondary CVG with cerebriform intradermal nevus, which has the potential to degenerate into malignant melanoma, and should be managed by complete excision.⁶