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\begin{document}

\title{Cutis Verticis Gyrata and epilepsy, is there a typical patient?}



\author[1]{Saleha  Aldawsari }%
\author[1]{Mohammed Aljughayman}%
\author[2]{Almunthir Alhamed}%
\author[1]{Mohammed  Alhazza}%
\affil[1]{King Fahad Hospital}%
\affil[2]{King Saud University Medical City}%


\vspace{-1em}



  
  \date{June 11, 2024}


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\textbf{Cutis Verticis Gyrata and epilepsy, is there a typical patient?}

\textbf{Dr. Saleha Aldawsari (1), Dr. Mohammed Aljughayman (2), Dr.
Almunthir Alhamed (3), Dr. Mohammed Alhazza, FRCPC (4)}

\begin{enumerate}
\tightlist
\item
  \textbf{Dermatology and Dermatopathology consultant, King Fahd
  Hospital in Hafouf, Saudi ArabiaEmail: Dr\_salha001@yahoo.com}
\item
  \textbf{Department of Dermatology, King Fahd Hospital in Hafouf, Saudi
  ArabiaEmail: mohammed.aljughayman1@gmail.com}
\item
  \textbf{Department of Dermatology, Kind Saud University Medical City,
  Saudi ArabiaEmail: Almunthir.Saud@gmail.com}
\item
  \textbf{Department of Neurology, King Fahd Hospital in Hafouf, Saudi
  ArabiaEmail: Dr\_mohhazza@hotmail.com}
\end{enumerate}

\textbf{Corresponding author:}

Dr. Mohammed Aljughayman

Department of Dermatology, King Fahd Hospital in Hafouf, Saudi Arabia

Address: KFU Campus 121, Alhafouf, Saudi Arabia

Phone number: +966533400171

Email: Mohammed.Aljughayman1@gmail.com

\textbf{No conflict of interest to be reported.}

\textbf{No funding for this article.}

\textbf{Patient Consent have been Obtained.}

\textbf{Key words:}

Epilepsy, Cutis Verticis Gyrata, Neurology, Dermatology.

\textbf{Key Clinical Message:}

Epilepsy and CVG can coexist even without typical known causes. It's
important to be open to new explanations for this relationship. While
certain characteristics often seen in affected patients, the underlying
reasons for this association remain unclear. Physicians should be aware
that CVG could serve as an early indication of epilepsy or other
neurological disorders.

\textbf{Introduction:}

Cutis verticis gyrata (CVG) is a rare dermatological condition
characterized by thickening and folding of the scalp, resulting in a
corrugated or ridged appearance. The term ''cutis verticis gyrata''
translates to ''wrinkled skin of the scalp,'' and it typically affects
the vertex or top of the head. This condition is often congenital, but
it can also develop later in life due to factors such as trauma,
inflammatory conditions, or tumors (1). The folds and ridges in CVG are
caused by an increase in skin and underlying tissue, including the
dermis and subcutaneous fat (2).

CVG is occasionally associated with other medical conditions, including
neurological disorders such as epilepsy. Epilepsy is a chronic
neurological disorder characterized by recurrent seizures. Seizures
occur due to abnormal electrical activity in the brain, leading to
temporary disruptions in behavior, consciousness, movements, or
sensations (3). There is no clear evidence to suggest a potential link
between CVG and epilepsy, and the underlying mechanisms are not fully
understood (4).

The coexistence of CVG and epilepsy can have significant impacts on the
quality of life for affected individuals. The cosmetic appearance of CVG
may cause psychosocial distress and affect self-esteem. Epilepsy, on the
other hand, can result in limitations in daily activities, driving
restrictions, and potential safety risks during seizures. Therefore, an
integrated approach that addresses both the dermatological and
neurological aspects of these conditions is crucial for optimal
management and patient well-being.

\textbf{Case History/examination:}

A 15 years old Saudi male, right handed with unremarkable family
history. He is a son of a healthy non - consanguineous parents with no
family history of psychomotor delay, epilepsy or CVG. There is an
unremarkable antenatal history except for C section delivery and 3 days
PICU admission due to respiratory distress. Patient had a normal and
active childhood until he started to have difficulty speaking, change in
personality and weakened academic performance at the age of 9 and was
diagnosed with epilepsy.

Initially he was given lacosamide with significant improvement, until it
was out of stock and he was shifted to levetiracetam and carbamazepine
in 2021. During these years, the patient had episodes of visual
hallucinations and dizziness which resolved after the 3rd year of
treatment. Afterwards, the patient showed great improvement and the last
documented convulsion was 3 years ago, so he was prescribed only
levetiracetam once daily.

One year before the patient was diagnosed with epilepsy, he complained
of diffused swelling over the scalp associated with headache and
irritation. The swelling was non tender, non itchy and skin colored.
Over the period of multiple months, swelling has become more diffused
and severe to the extent it caused folds formation and hair loss.
Patient did not seek any medical advice regarding this swelling, until 2
months ago he presented to our clinic, as a result of continuous
bullying at school. Patient denied any ophthalmological or cardiac
complain.

On examination: A soft diffused swelling covering the back of the scalp
was noticed. There were folds (7) and furrows running in an
anteroposterior direction on the parietal and occipital areas of the
scalp. There were oily scales between the folds associated with bad
odor. Lesions are not flattened by direct pressure or traction.

\textbf{Methods (differential diagnosis, investigations and treatment):}

\textbf{Labs:~}

CBC:

WBC: Normal

Hgb: High (18.2 g/dl)

MCV: Low (75.7 FL)

RDW-CV: High (16.3\%)

Lymphocyte: High (58.4\%)

Hepatitis Serology: -ve

HIV: -ve

Prolactin, T3, T4 and TSH: Normal.

Growth hormone: Normal.

Vitamin D: Low (15.8mg/ml)

Testosterone: Normal

RFT: Unremarkable

LFT: Unremarkable

\textbf{CT of the Brain:}

There is thickening of the scalp (Parietal and Occipital region) with
ridges and furrows involving dermis and subcutis resembling the surface
of the cerebral cortex. No underlying lipoma seen. Impression: Cutis
Verticis Gyrata.

\textbf{MRI of the Brain:~}

Volume loss involves the right occipito-parietal lobes and posterior
aspect of the right temporal lobe with subcortical abnormal white matter
of high T2 - FLAIR signal intensity, ex vacuo dilation of adjacent
lateral ventricle.

Impression: No significant interval changes. Abnormality involving right
cerebral hemisphere suggestive of old insult.

\textbf{EEG:~}

Abnormal intermittent generalized slow in addition for intermittent
focal flow wich may indicate mild encephalopathy non specific.

\textbf{Biopsy:}

Stratified squamous epithelium with focal parakeratosis along with
hypertrophy and hyperplasia of adnexal structure, increased in collagen
fibers and mild perivascular lymphatic inflammation. Features compatible
with Cutis Verticis Gyrata.

\textbf{Conclusion and Results:}

Based on the clinical features, laboratory findings, and imaging
results, a diagnosis of Cutis Verticis Gyrata is made. The patient was
instructed to follow up in Neurology and Dermatology with the
possibility of surgical referral when needed. Proper skin care education
and neurological evaluation have been made with clear instructions.

\textbf{Discussion:}

Few case reports and studies have documented the coexistence of CVG and
epilepsy. In a case study published in the Indian Journal of
Dermatology, a 39-year-old man presented with CVG and a long-standing
history of epilepsy (5). Another study published in the Journal of
Clinical Neuroscience described a case of CVG associated with focal
epilepsy in a 30-year-old male (6). These reports suggest that there may
be a shared pathogenic mechanism or genetic predisposition that
contributes to both conditions.

The exact relationship between CVG and epilepsy remains unclear, and
further research is needed to elucidate the underlying mechanisms.
However, some hypotheses have been proposed. One theory suggests that
the abnormal folding and thickening of the scalp in CVG may exert
pressure on the underlying brain tissue, leading to disturbances in
electrical activity and potentially triggering seizures (4). Another
hypothesis suggests that there may be common genetic factors or
signaling pathways involved in the development of both CVG and epilepsy
(7).

In a 2016 study published in the American Journal of Medical Genetics
(8), the analysis of 62 cases of CVG revealed a consistent correlation
between CVG and significant psychomotor delay. The majority of patients
exhibited an inability to walk or talk, and a significant portion
experienced difficulties in performing activities of daily living. It is
important to highlight, however, that our patient's case deviates from
this observed pattern. Contrary to the typical presentation, our patient
demonstrated the ability to successfully engage in daily activities and
achieve psychomotor milestones without notable delays.

In a second study published in a clinical case reports journal in 2020,
two cases of drug-resistant epilepsy with CVG were evaluated (9).
Previous reports have indicated that conditions like acromegaly and low
testosterone levels can potentially lead to CVG. A study from 1964 even
reported that castration resolved CVG in two cases (10). However, our
patient's case contradicts these findings, as they had normal growth
hormone and testosterone levels.

In contrast to previous case reports where individuals with CVG and
epilepsy typically exhibit normal brain MRI results, our case
presentation reveals an abnormality in the patient's MRI. This
abnormality suggests a previous injury, which could be one of the
contributing factors to the patient's current condition. The presence of
encephalomalacia indicates the possibility of an ischemic stroke that
occurred during the prenatal, natal, or childhood period which may have
lead to the current situation.

The early onset of CVG which precedes the development of epilepsy in our
case, demonstrates the possibility of having CVG as an early indicator
of epilepsy or other neurological conditions.

Numerous case reports have examined potential associations and causal
factors related to Cutis Verticis Gyrata. For instance, a study
documented a case in which secondary CVG developed in a 46-year-old
female patient with Cerebriform Intradermal Nevus (11). Furthermore, an
Italian article published in 2022 reported two cases of CVG occurring in
patients with Noonan syndrome (12). Additionally, a recent case report
published in 2022 highlighted a case of CVG presenting in a patient
diagnosed with SAPHO (synovitis, acne, pustulosis, hyperostosis, and
osteitis) (13). These reports contribute to the growing body of
literature exploring the diverse etiologies and manifestations of CVG.

As evident from previous reports, the coexistence of epilepsy and CVG
can occur even in the absence of typical hypothetical causes. It is
crucial to remain open to new and innovative explanations for this
potential relationship. Although certain characteristics, such as male
gender and early onset, are commonly observed among affected patients,
the underlying origins of this association are still unclear.
Furthermore, physicians should be aware that CVG could be an early
indicator of epilepsy or other neurological disorders.

\textbf{References:}

1. Garg T, Chander R, Vaidya V, et al. Cutis Verticis Gyrata: A Rare
Case Report. Int J Trichology. 2010;2(2):116-118.
doi:10.4103/0974-7753.77515

2. Alper M, Selden M, Weil R. Scalp Reconstruction for Cutis Verticis
Gyrata Using a Superiorly Based Galeal Frontalis Muscle Flap. J
Neurosurg. 2005;103(2):348-350. doi:10.3171/jns.2005.103.2.0348

3. Fisher RS, Acevedo C, Arzimanoglou A, et al. ILAE Official Report: A
Practical Clinical Definition of Epilepsy. Epilepsia.
2014;55(4):475-482. doi:10.1111/epi.12550

4. Herskovitz I, Mutasim DF. Cutis Verticis Gyrata: A Review. J Eur Acad
Dermatol Venereol. 2015;29(5):842-846. doi:10.1111/jdv.12532

5. Sathyanarayana B D, Archana M S, et al. Cutis Verticis Gyrata. Indian
JDermatol. 2015;60(3):324. doi:10.4103/0019-5154.156388

6. Sinha S, Sachdeva N, Maheshwari MC. Cutis Verticis Gyrata with Focal
Epilepsy. J Clin Neurosci. 2002;9(3):337-339. doi:10.1054/jocn.2001.1089

7. Goto M, Muro Y, Hatakeyama T, et al. Cutis Verticis Gyrata and
Epilepsy with a Ring Chromosome 7. J Am Acad Dermatol.
2000;42(6):1057-1058. doi:10.1067/mjd.2000.104156

8. Tucci A, Pezzani L, Scuvera G, et al. Is cutis verticis
Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A
case report and review of 62 cases. Am J Med Genet A.
2017;173(3):638-646. doi:10.1002/ajmg.a.38054

9. Rattagan M, De Francesco M, Kriebaum A, Ferraro F, Major C, Sharma D,
Ojeda A, Martinez O, Musto AE. Cutis verticis gyrata: Two cases
associated with drug-resistant epilepsy. Clin Case Rep. 2020 May
18;8(8):1365-1368. doi:10.1002/ccr3.2814. PMID: 32884755; PMCID:
PMC7455441.

10. Akesson HO. Cutis Verticis Gyrata and Mental Deficiency in Sweden.
I. Epidemiologic and Clinical Aspects. Acta Med Scand. 1964
Jan;175:115-27. PMID: 14110633.

11. Fronek LF, Braunlich K, Farsi M, Miller RA. A Rare Case of Cutis
Verticis Gyrata with Underlying Cerebriform Intradermal Nevus. Cureus.
2019;11(12):e6499. doi:10.7759/cureus.6499

12. Mercadante F, Piro E, Bus\selectlanguage{ngerman}è M, et al. Cutis verticis gyrata and
Noonan syndrome: report of two cases with pathogenetic variant in SOS1
gene. Ital J Pediatr. 2022;48(1):152. doi:10.1186/s13052-022-01340-4

13. Wang Y, Wang S, Zheng L, et al. Synovitis, Acne, Pustulosis,
Hyperostosis, and Osteitis (SAPHO) Syndrome with Cutis Verticis Gyrata:
Case Report and Review of Literature. Clin Cosmet Investig Dermatol.
2022;15:1415-1420. doi:10.2147/CCID.S372522

\textbf{Authorship List and Contribution:}

Author 1:

Manuscript editing, general review and supervision, fact checking.

Author 2:

Manuscript writing, journal submission, data extraction.

Author 3:

Manuscript writing, data extraction.

Author 4:

Manuscript editing, general review and supervision.

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