Dermatology

Cutis verticis gyrata

Are You Confident of the Diagnosis?

  • What you should be alert for in the history

--Recent onset of puberty.

--Endocrinologic disorder.

--Neurologic, cranial, psychological disorder.

--Systemic or inflammatory disease.

--Skin folds are typically asymptomatic and not painful but secondary infection may result in symptoms of malodor, tenderness, and wet/sticky skin with discharge.

  • Characteristic findings on physical examination

--Thickened, soft, spongy skin folds and furrows on the vertex or occipital scalp, typically numbering 2-12, symmetric, and aligned anterior to posterior. Folds cannot be easily corrected or flattened (Figure 1).

Figure 1.

--No skin color changes are observed unless there is an underlying nevoid process.

--Typically normal hair in furrows but possibly thinner hair on folds.

Infection may arise in deep furrows and cause subsequent malodor, erythema, and maceration.

Categorizing the type of cutis verticis gyrata (CVG) can be helpful in differentiating the cause:

--Primary essential CVG: No other associated abnormalities.

--Primary non-essential CVG: Associated with mental (schizophrenia, epilepsy, cerebral palsy, mental deficiency), anatomic (microcephaly, ophthalmologic abnormalities) or functional (deafness) deficiency or abnormalities. Often seen at birth or young age.

--Secondary CVG: Underlying disease or process that produces a CVG lesion. Reported cases include harmartomas (nevi), neurofibroma, fibroma, amyloidosis, cylindroma, systemic T cell lymphoma, breast carcinoma cutis, HIV-related lipodystrophy, acromegaly, Noonan's, Turner's, tuberous sclerosis, and more. Recently, secondary CVG has been reported after vemurafenib and whole-brain radiotherapy for advanced melanoma.

  • Expected results of diagnostic studies

Primary essential CVG is seen in otherwise normal individuals with no other abnormalities, and thus any laboratory tests performed during clinical work up are normal, although a low free testosterone level may be present. In primary non-essential and secondary CVG, laboratory findings depend on the underlying disorder/disease and laboratory test choice should be guided by history and physical examination.

Normal cutaneous histopathology is typical for primary CVG, although a thickened dermis, hypertrophy of adnexal structures (e.g., pilosebaceous units, sweat glands), or increased hyaluronic deposition may be present. Histopathology in secondary CVG depends on the underlying process (e.g., inflammation, lymphedema, neoplasia, cellular infiltration, etc.,).

Brain imaging

In cases of primary non-essential or secondary CVG, computed tomography (CT) and/or magnetic resonance imaging (MRI) may find structural brain abnormalities such as atrophy, calcifications, dilated ventricles, enlarged sellae, polymicrogyria, colpocephaly, tumor, or skeletal changes.

Genetics

Primary essential CVG has shown some familial tendency, and in primary non-essential or secondary CVG, chromosomal analysis may find abnormalities such as Noonan's syndrome, Turner's syndrome, Fragile X syndrome, etc.

Electroencephalography

Electroencephalography (EEG) should be performed in all patients with mental deficiency and may find diffuse slowing of background activity, frequent temporal spikes, and spike-wave complexes spreading to the frontal area.

  • Diagnosis confirmation

The differential diagnosis for CVG includes the following:

Cutis laxa (elastolysis): Rare connective tissue disorder of elastin fibers resulting in loose, wrinkled, hanging skin folds over entire surface of body, although often most noticeable on face. In cutis laxa, skin folds are found over entire surface of the body and can be easily corrected/flattened, whereas CVG only affects the scalp and folds cannot be corrected/flattened.

Cylindroma: Benign skin appendageal tumor that may present in solitary or multiple form, most commonly on head/neck. In multiple form, tumors may enlarge and coalesce on the scalp forming a "turban tumor." This form could therefore cause folds/furrows in scalp but can be distinguished from CVG due to its nodular morphology and histologic examination.

Who is at Risk for Developing this Disease?

CVG is a rare cutaneous disorder in which multiple (typically numbering 2 to12), thickened skin folds develop in a cerebriform pattern on the scalp.

CVG has been classified into three types that help determine the cause:

--Primary essential: No other associated abnormalities.

--Primary non-essential: Associated with mental, physical, or functional abnormalities or deficiencies. These may involve cerebral palsy, epilepsy, mental deficiency, deafness, cataracts, strabismus, retinitis pigmentosa, microcephaly, schizophrenia, etc. Studies have estimated the frequency of CVG in males with mental deficiency to range from 0.71-11.4%.

--Secondary: Due to another condition that gives the appearance of CVG:

  • Nevi and other hamartomas, neurofibromas, cylindromas.

  • Systemic diseases or syndromes: Acromegaly, myxedema, tuberous sclerosis, Noonan and Turner syndromes, diabetes mellitus, cretinism, pachydermoperiostosis, infiltrative neoplasias.

  • Inflammatory dermatoses: atopic dermatitis, psoriasis, Darier's.

  • Prevalence in the general population is unknown but has been estimated to be 1 in 100,000 (males) and 0.026 in 100,000 (females).

  • Primary CVG is 5 to 6 times more common in males than females. Longer hair in females, however, may result in undiagnosed cases.

  • Most cases of primary essential CVG present shortly after puberty, possibly due to rising testosterone levels. Primary non-essential is often present at birth or early childhood and is associated with obvious mental, physical, or functional abnormalities/deficiencies. Secondary CVG varies in time of presentation but may also be present at birth.

  • One differentiating point would be that most primary CVG patients have symmetric folds whereas secondary CVG patients would be more likely to have asymmetric folds.

What is the Cause of the Disease?

  • Etiology

  • Pathophysiology

In primary CVG, the etiology and pathophysiology are unknown; however, primary lesions may be influenced by genetic and/or endocrinologic factors such as X-linked inheritance and increased utilization of testosterone in peripheral tissues. These factors may explain the male predominance.

Secondary CVG is caused by an underlying disease that induces secondary skin changes through processes such as inflammation, lymphedema, neoplasia, or hyperplasia.

Systemic Implications and Complications

Primary essential CVG is present with no other abnormalities or known risk factors.

Primary non-essential CVG occurs in patients with neurologic, ocular, cranial, or psychological disorders. Examples of associated abnormalities include cerebral palsy, epilepsy, mental deficiency, deafness, cataracts, strabismus, retinitis pigmentosa, microcephaly, and schizophrenia.

Secondary CVG occurs in patients with an underlying disease, most commonly from systemic disease (e.g., diabetes mellitus, myxedema, acromegaly, cretinism, Turner's, Noonan's, pachydermoperiostosis, neoplasia), inflammatory dermatoses (e.g., atopic dermatitis, psoriasis, Darier's disease), nevoid abnormalities (e.g., cerebriform intradermal nevus), or trauma.

Appropriate work up and management is therefore dependent on the underlying disorder/disease; however, in patients with suspected primary non-essential or secondary CVG, one should typically obtain cutaneous biopsy, brain imaging (CT/MRI), EEG, and chromosomal analysis, in addition to the routine evaluation for the specific underlying condition.

Treatment Options

Primary essential cutis verticis gyrata

Medical

--Rule out non-essential and secondary forms; Consider expert consultation.

--If confirmed primary essential, consider observation only (no treatment) for CVG lesion.

Surgical

--Excision/subcision by a plastic surgeon for psychological or aesthetic purposes.

Primary non-essential cutis verticis gyrata

Medical

--Treat/manage underlying neurologic, ocular, cranial, and/or psychological disorders.

--Consider observation only (no treatment) for CVG lesion.

Surgical

--Treat/manage underlying neurologic, ocular, cranial, and/or psychological disorders.

--Consider excision/subcision by a plastic surgeon.

Secondary cutis verticis gyrata

Medical

--Treat/manage underlying disease (e.g., diabetes mellitus, myxedema, acromegaly, cretinism, atopic dermatitis, etc.,).

--CVG lesion may resolve after successful treatment of underlying disease, therefore consider observation only (no treatment) for CVG lesion.

Surgical

--Treat/manage underlying diseases (e.g., pachydermoperiostosis, cerebriform intradermal nevus, etc.,).

--Consider excision/subcision of CVG lesion by a plastic surgeon.

--Wide surgical excision is recommended for cerebriform intradermal nevus.

Optimal Therapeutic Approach for this Disease

  1. Assess for and then treat/manage underlying disorder/disease if present.

  2. If CVG lesion remains after treating underlying disease, or if primary CVG, consider observation only due to the relatively benign nature of the CVG lesion.

  3. If desired, consider a plastic surgery consultation for possible surgical excision of the CVG lesion.

  4. Some secondary causes of CVG (e.g., cerebriform intradermal/melanocytic nevus) have the potential for malignant transformation (e.g., malignant melanoma). These lesions therefore should be surgically excised or followed regularly.

  5. Regular hygiene is recommended for all types of CVG to avoid secondary infections in deep furrows.

Patient Management

  1. Determine the category of CVG (primary essential, primary non-essential, secondary):

    1. If CVG is present at birth or if obvious underlying disorder is present, then a full evaluation (see below) for non-essential and secondary causes is indicated.

    2. If CVG presents after puberty in otherwise normal child/adolescent, consider evaluation for secondary causes as indicated by a complete history/physical, but advanced brain imaging, EEG, etc., may not be necessary.

      1. For suspected primary non-essential and secondary forms, obtain expert consultation as appropriate (e.g., neurology, ophthalmology, internal medicine/pediatrics, genetics, or plastic surgery).

      2. For suspected primary non-essential and secondary forms, a full work up consists of a complete history/physical examination, screening laboratory tests as appropriate (e.g., fasting glucose, basic chemistries, TSH, hormone levels, etc.,), brain imaging (CT/MRI), EEG, cutaneous biopsy, and chromosomal analysis, before or concurrent with expert consultation. The authors guide their work up based on the history and physical and rarely do extensive work ups unless guided by the history and physical examination.

      3. Regular hygiene is recommended for all types of CVG to avoid secondary infections in deep furrows.

      4. Regular follow up with the patient is recommended at least every 6 months, even in those with primary essential CVG, to document progression of the CVG lesion and to monitor care of any underlying conditions.

      5. Treat/manage underlying disorders or diseases, but most CVG lesions do not necessarily require treatment/removal.

      6. If desired for aesthetic, psychological, or prophylactic (e.g., potential for malignant transformation) reasons, consult plastic surgeon to consider surgical excision/subcision of CVG lesion.

      7. Patients and family should be counseled that CVG is a relatively benign lesion that typically persists unless surgically resected, and treatment/management of any underlying disorder or disease is paramount. Prognosis depends on underlying disorder/disease.

Unusual Clinical Scenarios to Consider in Patient Management

Some secondary causes of CVG (e.g., cerebriform intradermal/melanocytic nevus) have the potential for malignant transformation (e.g., malignant melanoma) and therefore should be surgically excised.

A wide variety of underlying disorders/diseases can result in a primary non-essential or secondary CVG lesion, and therefore many atypical clinical scenarios may arise depending on the underlying condition.

What is the Evidence?

Polan, S, Butterworth, T. "Cutis verticis gyrata: a review with report of seven new cases". Am J Ment Defic. vol. 57. 1953. pp. 613-31.

(First article to delineate primary from secondary forms of CVG.)

Akesson, HO. "Cutis verticis gyrata and mental deficiency in Sweden: I. Epidemiologic and clinical aspects". Acta Med Scand. vol. 175. 1964. pp. 115-27.

(Large analysis in Swedish population that provides epidemiologic, clinical, and genetic data concerning CVG.)

Akesson, HO. "Cutis verticis gyrata and mental deficiency in Sweden: II. Genetic aspects". Acta Med Scand. vol. 177. 1965. pp. 459-64.

(Large analysis in Swedish population that provides epidemiologic, clinical, and genetic data concerning CVG.)

Garden, JM, Robinson, JK. "Essential primary cutis verticis gyrata: Treatment with the scalp reduction procedure". Arch Dermatol. vol. 120. 1984. pp. 1480-3.

(Garden and Robinson created the three-tier system dividing CVG into primary essential, primary non-essential, and secondary. Surgical treatment is also discussed.)

Larsen, F, Birchall, N. "Cutis verticis gyrata: Three cases with different aetiologies that demonstrate the classification system". Australas J Dermatol. vol. 48. 2007. pp. 91-94.

(Review of the CVG classification system with examples.)

Alorainy, IA. "Magnetic resonance imaging of cutis verticis gyrata". J Comput Assist Tomogr. vol. 32. 2008. pp. 119-23.

(Review of MRI findings associated with CVG.)

Harding, JJ, Barker, CA, Carvajal, RD, Wolchok, JD, Chapman, PB, Lacouture, ME. "Cutis verticis gyrata in association with vemurafenib and whole-brain radiotherapy". J Clin Oncol. vol. 32. 2014. pp. e54-6.

(Case report of CVG after vemurafenib and radiotherapy for metastatic melanoma.)

Suh, H, Florez-Menendez, A, de La Torre-Fraga, C. "A familial form of primary essential cutis verticis gyrata". Actas Dermosifiliogr. 2016 Jan 29.

(Case report of familial CVG.)
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