Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature

Dear Editor,

Cutis verticis gyrata (CVG) is a rare, benign deformity of the scalp characterized by excessive proliferation and hypertrophy of the skin and subcutaneous tissue. It can be classified as primary essential, primary non-essential, or secondary. Primary essential CVG occurs without any associated comorbidities, whereas primary non-essential CVG occurs with neurological or ophthalmological abnormalities. Secondary CVG usually occurs due to inflammatory or neoplastic changes in the scalp or in individuals with any underlying systemic illness.[1,2,3]

A woman in her late thirties presented with asymptomatic thickening of the scalp skin with folds that were noticed incidentally following a tonsure. She denied any history of scalp dermatoses in the past. There was no history of any consanguinity, trauma, or any other known comorbidities. Family history was not contributory. The physical examination revealed multiple, symmetrical, longitudinal folds and furrows over the parietal and vertex regions of her scalp [Figure 1]. The frontal, temporal, and occipital aspects of the scalp did not show any abnormalities. There was no associated thickening or furrowing of the face.

Figure 1.

Multiple, symmetrical, longitudinal folds and furrows over the parietal and vertex regions of the scalp

Neuropsychiatric and ophthalmological examinations were unremarkable. Blood investigations like complete blood count, liver function tests, renal function tests, fasting lipid profile, blood sugar, HbA1c, thyroid stimulating hormone, serum cortisol, and growth hormone levels were found to be normal. Her VDRL, ANA, and HIV tests were found to be negative. Computed tomography of the skull did not show any alterations. A 4mm punch biopsy was taken from one of the convolutions in the scalp. It showed a dermis with hyperplasia of the pilosebaceous unit and hair follicles [Figure 2]. After ruling out the secondary causes of CVG, a diagnosis of primary essential CVG was made.

Figure 2.

Dermis with hyperplasia of the pilosebaceous unit (H&E, 40x)

CVG is characterized by excessive growth of the scalp skin and the formation of furrows that resemble a cerebriform pattern. The first case with a characteristic cerebriform appearance of the scalp was described by Alibert in 1837. In 1953, Polan and Butterworth classified CVG into two forms: primary and secondary.[4,5,6]

The estimated prevalence of CVG is 1 in 100,000 males and 0.026 in 100,000 females in the general population. Primary CVG is often noted during or after puberty.[4] The male preponderance and postpubertal onset have been attributed to hormonal influences.[2] The exact reasons for the rarity of CVG among females are not known. Only three cases of primary CVG have been reported among females in the medical literature.

Primary CVG presents as symmetrical scalp folds, which usually extend anteroposteriorly from the vertex to the occiput. There may be around 2–30 folds, with varying widths (0.75–4 cm) and depths (a few millimeters to 1 cm).[6] CVG is often asymptomatic in most patients. At times, they can present with non-cosmetic issues such as headaches, itching, hair loss, dysesthesia, tenderness, local infections, maceration, or an unpleasant odor (fetid or butyric odor).[6]

The primary non-essential form of CVG presents with several neurological manifestations (microcephaly and seizures, mental retardation, schizophrenia, cerebral palsy, and epilepsy) or ophthalmological changes (cataract, strabismus, blindness, and retinitis pigmentosa). Around 0.2–4.5% of patients with a primary non-essential type of CVG have associated intellectual disabilities.[7] Secondary CVG can occur due to various conditions that are mentioned in Table 1. The differences between primary and secondary CVG are mentioned in Table 2.

Table 1.

The conditions associated with secondary cutis verticis gyrata

Dermatological causes	Eczema
	Psoriasis
	Folliculitis
	Impetigo
	Erysipelas
	Pemphigus
	Dariers
	Pachydermoperiostosis
	Acne conglobata
	Cutaneous focal mucinosis
	Dermatofibroma
	Collagenoma
	Neurofibroma
	Cerebriform intradermal nevus
	Fibromas
	Cylindromas
	Naevus lipomatosus
	Connective tissue naevi
Malignancy	Pituitary tumours
	Intracerebral aneurysm
	Leukemia
	T-cell lymphoma
Infections	Syphilis
	Acquired immunodeficiency disease syndrome
Systemic disorders	Acromegaly
	Tuberous sclerosis
	Amyloidosis
	Myxoedema
	Acanthosis nigricans
	Diabetes mellitus type 2
Syndromes	Noonan syndrome
	Beare-Stevenson syndrome
	Ehlers-Danlos Syndrome
	“Michelin tire baby” syndrome
	Apert syndrome
	Turner syndrome
	Fragile X syndrome
	Hyper IgE syndrome
Drugs	Anabolic steroids

Table 2.

The differences between primary and secondary cutis verticis gyrata

	Primary	Secondary
Onset	After puberty but before the third decade	Any age
Sex	Male > Female	Men and women are affected with similar frequency
Family history	Present in most of the primary CVG	Absent
Folds	Symmetric folds. Usually, 2–30 folds	Variable folds
Direction of folds	Runs longitudinally from anterior to posterior (commonly vertex and occiput)	Does not run longitudinally.
Histology	Ranges from normal findings of dermal and epidermal structures to increased collagen, hypertrophy, or hyperplasia of the surrounding adnexa	Depends on the underlying cause

The differential diagnoses of CVG are pachydermoperiostosis, acromegaly, cutis laxa, cylindroma, cerebriform intradermal nevus, and inflammatory diseases of the scalp. Pachydermoperiostosis causes furrowing of the scalp as well as the face.[8] CVG can be differentiated from cutis laxa by giving traction and looking into whether folds can be flattened or not.[5] However, in primary CVG, folds could partially flatten. The investigations to be carried out in patients with CVG to rule out secondary causes are mentioned in Table 3.

Table 3.

Investigations to be performed in a case of cutis verticis gyrata

Laboratory investigations	Complete blood count
	Liver and renal function tests
	Basic metabolic profile
	Total iron binding capacity
	Blood sugar
	Insulin, insulin-like growth factor-1
	Thyroid function tests
	Growth hormone level
	Serum cortisol
	Serum dihydrotestosterone, testosterone
	Serum cholesterol
	ANA
	VDRL
	HIV
Radiological investigations	Plain radiographs
	Computed tomography
	MRI
Histopathology	Skin biopsy

ANA – Antinuclear antibody, VDRL – Venereal Disease Research Laboratory, HIV- Human Immunodeficiency Virus, MRI – Magnetic Resonance Imaging

A scalp biopsy is essential to exclude primary CVG from other causes of secondary CVG. Histopathology of primary essential CVG shows normal epidermis. The dermis may show either hyperplasia of the pilosebaceous unit and hair follicle, or an increase in the collagen bundles. In secondary CVG, histopathology depends on the underlying pathology.[3,6] Radiological investigations like X-ray, CT, and MRI help in ruling out secondary causes like intracranial and scalp tumors, intracerebral aneurysms, and pachydermoperiostosis.

The treatment for primary essential CVG includes symptomatic treatment such as maintenance of local hygiene, oral antihistaminics, topical steroids, and antibiotics in case of any secondary infections. Surgery is indicated only for cosmetic appeal, psychological concerns, and in case of any complications. For smaller folds, local excision and primary closure can be performed. The larger fold may require tissue expansion and staged excision or partial resection of the most abundant section of the lesion.[2] Management of the underlying cause is the mainstay of treatment in secondary CVG.

To conclude, the occurrence of primary essential CVG among females is extremely rare. The diagnosis of primary essential CVG can only be made after ruling out the causes of primary non-essential and secondary causes of CVG.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.