Practice Essentials
Cutis verticis gyrata (CVG) is a descriptive term for a condition of the scalp manifesting as convoluted folds and furrows formed from thickened skin of the scalp resembling cerebriform pattern. Although Alibert first mentioned it, Robert described the condition in 1843. Unna introduced the term cutis verticis gyrata in 1907 [1] . Polan and Butterworth [2] established the classification of cutis verticis gyrata in 1953, dividing cutis verticis gyrata into primary and secondary forms.
In 1984, Garden and Robinson [3] improved the classification by proposing new terms: primary essential cutis verticis gyrata for cases in which no other abnormality was found (rare) and primary nonessential, which can be associated with mental deficiency, cerebral palsy, epilepsy, schizophrenia, cranial abnormalities (microcephaly), deafness, ophthalmologic abnormalities (cataract, strabismus, blindness, retinitis pigmentosa), or a combination of these. The latter has been named cutis verticis gyrata and intellectual disability (OMIM 219300) or cutis verticis gyrata–intellectual disability (CVG-ID) syndrome. [4]
Secondary cases of cutis verticis gyrata are associated with the following underlying diseases and treatments:
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Acromegaly [5, 6, 7]
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Amyloidosis [8]
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Autosomal dominant insulin-resistant syndrome [9]
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Beare-Stevenson syndrome
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Connective tissue nevus
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Cretinism
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Cutaneous leiomyomatosis [10]
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Diabetes mellitus
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Fallopian tube carcinoma
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Focal mucinosis
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Graves disease [11]
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Hereditary neuralgic amyotrophy [12]
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HIV-related lipodystrophy [13]
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Inflammatory processes (eg, psoriasis, Darier disease, folliculitis, impetigo, erysipelas, atopic dermatitis, acne conglobata, acne keloidalis nuchae) [16, 17, 18, 19, 20]
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Intracranial aneurysm [21]
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Intraventricular ependymoma [21]
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Leukemia [22]
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Neurofibroma [29]
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Nevus lipomatosus
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Noonan syndrome [18, 30]
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Pachydermoperiostosis [31, 32, 33]
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Posttraumatic (eg, traction alopecia) [34]
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Pseudoacromegaly [35]
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Scleromyxedema without monoclonal gammopathy [36]
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Supernumerary X chromosome syndromes (including Klinefelter syndrome) [37]
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Systemic T-cell lymphoma [38]
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Vemurafenib and whole-brain radiotherapy combination treatment in melanoma patients [39, 40]
Patient education
Educate patients with cutis verticis gyrata that proper hygiene of the scalp is essential to avoid the accumulation of secretion in the furrows. Lack of hygiene may be the cause of an unpleasant smell and secondary infection.
Presentation
See History and Physical Examination.
Workup
In primary cases, no laboratory tests should be ordered. A low free testosterone level was observed in some patients with primary cutis verticis gyrata. [41]
In secondary cases, laboratory tests depend on the presentation and the associated disease.
Always obtain a skin biopsy specimen of the affected area of the scalp to identify the etiology of cutis verticis gyrata. [24, 25] Evaluate female infants with cutis verticis gyrata with or without peripheral lymphedema by chromosomal analysis to exclude Turner syndrome.
Obtain an EEG in all patients with mental deficiency and cutis verticis gyrata to establish the nature of the mental disorder. Among others, severe diffuse slowing of the background activity with very frequent right temporal spikes and spike-wave complexes that spread to the frontal area were described. [42]
The histopathologic picture is of normal appearance in most cases of the primary type. In some cases, dermal collagen thickening, hypertrophy of the pilosebaceous structures, and multiple sweat glands and ducts may be present. [43] In the secondary form, the histopathologic picture depends on the underlying disease. [25]
Also see Imaging Studies.
Treatment
See Treatment.
Pathophysiology
In the primary essential form, the etiology is not known, and, though most of the cases seem sporadic, autosomal recessive and autosomal dominant inheritance with variable expression have been described. In the primary nonessential form, the pathogenesis (beside the genetic determination) may have an endocrinologic basis. [18, 44]
Cutis verticis gyrata mainly occurs in males, after puberty, and it may disappear after castration. [3] This may be due to increased peripheral use of testosterone, which was further supported by the results of the study in which the free testosterone level was reduced in patients with primary cutis verticis gyrata compared with controls. [41] Male predominance may also suggest an X-linked inheritance. An association with the fragile X syndrome or other fragile sites on chromosomes 9, 10, and 12, and, in a single case, breaks at bands 3p14 and 16q23, has been reported. [45, 46, 47, 48, 49] In the secondary form, the etiology depends on the underlying process (eg, inflammatory, neoplastic). Lymphedema is a postulated cause of cutis verticis gyrata in Turner and Noonan syndromes. [30, 50, 51, 52] A possible role of IGF-1 in the pathogenesis in acromegaly-associated cutis verticis gyrata was suggested. [53]
Etiology
The cause is unknown in primary cases, although genetic and endocrinologic factors are suspected to participate in the etiology. Systemic diseases, inflammatory dermatoses, underlying nevoid abnormalities, and trauma are most common in secondary cases. Cutis verticis gyrata‒like lesions have been described in melanoma patients undergoing treatment with vemurafenib and whole-brain radiotherapy, but not with each of the treatments alone. [39, 40]
Epidemiology
Frequency
United States
Cutis verticis gyrata occurs in 0.5% of people with intellectual disability. [3]
International
In male patients residing in mental hospitals, the frequency varies from 0.71% to 3.4% in Scotland and Sweden. [54, 55, 56] Among the intellectual disabled adult male patients in Italy, the prevalence was as much as 11.4%. [48] The only data available for the general population are from 1964, with an estimated prevalence of 1 case in 100 000 population for males and 0.026 case in 100,000 population for females. [54, 55] A systematic review of all patients with CVG-ID syndrome reported in the last 60 years suggests that it is most likely under-recognized as a result of the deinstitutionalization of severely intellectually disabled people. [4]
Race
No data are available, though the higher prevalence in Italy may be associated with an ethnic factor as most patients were of Sicilian origin. [48]
Sex
In primary cutis verticis gyrata, a male-to-female ratio of 5:1 or 6:1 is observed. The incidence of cutis verticis gyrata may appear to be lower in women because longer hair may camouflage the condition. [3]
Age
Most primary cases develop after puberty and often (90%) before age 30 years. Congenital cases of primary cutis verticis gyrata have been rarely reported. [57] Some secondary forms, like cerebriform intradermal nevus, may be present at birth. [3]
Prognosis
The prognosis of primary cutis verticis gyrata is good, although the condition does not regress without surgical intervention and progression of cutis verticis gyrata may be observed. In secondary cases, the prognosis depends on the underlying process. [33]
Cutis verticis gyrata is long lasting and progressive. It is often found to be unacceptable because of cosmetic reasons. It can be complicated by malignant melanoma developing within a congenital melanocytic nevus. [24, 58]
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Cutis verticis gyrata. Courtesy of DermNet New Zealand (http://www.dermnetnz.org/assets/Uploads/dermal-infiltrative/cvg2.jpg).
