Cutis verticis gyrata. Presentación de un caso y revisión de la literatura

RESUMEN La cutis verticis gyrata es una patología poco frecuente del cuero cabelludo caracterizada por la proliferación del tejido celular subcutáneo e hipertrofia que produce pliegues y surcos que le dan aspecto cerebriforme. Aunque su etiología es aún desconocida, la condición no es exclusivamente congénita, se ha propuesto como teoría la presencia de mutaciones autosómicas dominantes en el receptor de factor de crecimiento de fibroblastos 2. Esta patología es extremadamente rara en pediatría. Se divide en primaria y secundaria. Se presenta el caso de un adolescente de 15 años, de sexo masculino con presencia de cutis verticis gyrata primaria esencial, donde la principal preocupación fue el prurito y la presencia de fetidez. Teniendo en cuenta el carácter benigno de esta condición, se decidió solo manejo sintomático. El caso que se presenta es el primero reportado en la provincia Cienfuegos en edad pediátrica, lo que reafirma la importancia de reconocer esta entidad y su abordaje adecuado para distinguir las formas clínicas de presentación para su mejor tratamiento terapéutico. Dada la rareza de la entidad en edad pediátrica se decide presentar este caso, además de una revisión de la literatura.

ABSTRACT Cutis verticis gyrata is a rare pathology of the scalp characterized by the proliferation of subcutaneous cellular tissue and hypertrophy that produces folds and furrows that give it a cerebriform appearance. Although its etiology is still unknown, the condition is not exclusively congenital, the presence of autosomal dominant mutations in the fibroblast growth factor receptor 2 has been proposed as a theory. This pathology is extremely rare in pediatrics. It is divided into primary and secondary. The case of a 15-year-old male adolescent with the presence of essential primary cutis verticis gyrata, where the main concern was pruritus and the presence of fetidity is presented. Taking into account the benign nature of this condition, only symptomatic management was decided. The case presented is the first reported in Cienfuegos province in pediatric age, which reaffirms the importance of recognizing this entity and its adequate approach to distinguish the clinical forms of presentation for its best therapeutic treatment. Once the oddity of the entity in pediatric age was given this case, in addition to a revision of literature decides to show up.

A case of elephant extremities in a Filipino male: Primary Familial Pachydermoperiostosis

@#This is a rare case of primary pachydermoperiostosis (PDP). A 28-year-old Filipino male presented with a lifelong history of enlarged hands and feet. He eventually developed symmetrical swelling of the ankles and knees associated with leg heaviness and knee pain with difficulty with ambulation, hence consult. His eldest brother also had the same “elephant-like” extremities. He had cutis vertices gyrata with a thickened corrugated hair pattern, deep lines on the forehead, deepened nasolabial folds, enlarged extremities especially distally, with coarse, thick skin, and prominent clubbing. The nails were convex “watch crystal-like.” The wrists, knees, and ankles were tender and enlarged, with massive effusion of the knees. All joints were devoid of warmth and erythema. Skeletal survey favored hypertrophic osteoarthropathy over acromegaly, with periosteal thickening of the metaphysis and digital clubbing. The filarial smear was negative for blood parasites. Skin biopsy showed keratoderma. Synovial fluid was non-inflammatory while arthroscopic synovial biopsy showed chronic inflammation eosinophilic amorphous tissue. Electrocardiogram, echocardiogram, thyroid function tests, complete blood count, peripheral blood smear, serum chemistries, coagulation tests, urinalysis, urine electrolytes, fecalysis, and chest CT scan were unremarkable. Whole abdomen ultrasound revealed the liver parenchymal disease. Hepatitis profile revealed chronic infection with hepatitis B, with low infectivity. The three major criteria for PDP (pachydermia, periostitis, and digital clubbing) were fulfilled. Possible secondary causes were either excluded or were non-contributory. He was started on analgesics and anti-inflammatory medicines. Repeated arthrocenteses drained liters of synovial fluid per knee, and along with intra-articular steroid injections and compressive bandages, temporarily relieved his bilateral knee pain. He was referred to rehabilitation to maximize his range of motion and to address body image issues. The patient remains on regular follow-up for periodic arthrocentesis. The option of anti-VEGF treatment and arthrotomy was explored as possibilities but were not deemed practical. PDP is a rare genodermatosis. Life span is not affected but the quality of life is dismal without supportive management, as there is no known cure. A multidisciplinary team composed of a rheumatologist, dermatologist, orthopedic surgeon, plastic surgeon, rehabilitation physician, and a psychiatrist should be available to assist in the needs of these patients.

Secondary cutis verticisgyrata / Cutis verticis gyrata secundario

RESUMEN El cutis verticis gyrata es una condición del cuero cabelludo de baja frecuencia en la población, que se caracteriza por pliegues y surcos profundos en el cuero cabelludo que adoptan una configuración cerebriforme. Es más frecuente en hombres que mujeres, se clasifica en primario y secundario según la etiopatogenia, histopatología, clínica y causas. A continuación, se presenta el caso de un paciente de sexo masculino de 54 años de edad con diagnóstico de cutis verticis gyrata secundario a metástasis cerebrales provenientes de un tumor primario desconocido.

SUMMARY Cutis verticis gyrate is an unusual scalp disease that is characterized by convoluted folds and deep furrowsthat simulates the cerebral cortex. It is more common in men than women and it is classified into primary and seconday according to etiopathogenesis, histopathology, causes and clinical manifestations. We report a 54 years old tobacco user patient who presents for evaluation and management with a secondary cutis verticis gyrate associated with brain metastasis with unknown primary tumor.

Proliferating Trichilemmal Tumor with Primary Essential Cutis Verticis Gyrata / 대한피부과학회지

No abstract available.

Cutis Verticis Gyrata and Alopecia Areata: A Synchronous Coincidence?

Cutis verticis gyrata (CVG) is a descriptive term for a scalp condition that is convoluted folds and deep furrows that resemble the surface of the cerebral cortex. It is categorized by the underlying etiology, as primary essential, primary non-essential and secondary. Alopecia areata (AA) is a common, organ specific autoimmune disease, and most AA cases are sporadic. There is clearly a strong genetic component. There is no established relationship between CVG and AA. We report one case which was affected with essential primary CVG and alopecia areata, and suggest a possibility of genetic association between CVG and AA, possibly both being related to mutations in the fibroblast growth factor receptor 2 (FGFR2).

A Case of Pachydermoperiostosis

PURPOSE: Pachydermoperiostosis is a rare hereditary disease characterized by finger clubbing, periosteal reaction, and pachydermia. The underlying pathogenic mechanism of this disease remains unclear. This disease is known to be associated with a variety of diseases such as cranial suture defect, bone marrow failure, hypertrophic gastropathy, Crohn's disease, and female escuchen. METHODS: A 50-year-old male had digital clubbing of both hands, coarse hypertrophic skin changes of face, progressive thickening and furrowing on the scalp(cutis verticis gyrata), persistent pain in the limbs and joints. Other cutaneous features include moderate blepharoptosis, pole-like lower legs and feet. RESULTS: We performed surgical excision for hypertrophic skin change of scalp because of frequent eczematous skin change, severe itching sensation and cosmetic problem. Diagnosis is confirmed by bony proliferative periosteal reaction, pathologic findings, and characteristic clinical findings. CONCLUSION: Pachydermoperiostosis is manifested by finger clubbing, and hypertrophic skin changes causing coarse facial features with thickening and periosteal bone formation. We experienced a case of pachydermoperiostosis. Brief review of related literature is given.

Cutis Verticis Gyrata : A Case Report

PURPOSE: Cutis verticis gyrata(CVG) is a morphologic syndrome, typically occurring on the scalp, characterized by varing development of permanent folds and furrows conferring a corrugated or convoluted appearance which resembles the outer surface of the cerebrum. Cutis verticis gyrata can be categorized into primary and secondary types according to various etiologic factors and associated conditions which cause disease process. METHODS: We report a case of essential primary cutis verticis gyrata in a 24-year-old male who did not have any other underlying or associated conditions. RESULTS: After we made an incision to the galea aponeurotica of patient's scalp four times under local anesthesia, we dissected along the subapponeurotic layer and adjusted the flaps each other, and then sutured the flap. CONCLUSION: After the operation, the clear margin disappeared and it did not recur.

Pachydermoperiostosis in a 19 Year-old Boy Presenting as an Acromegaly-like Syndrome / 대한소아내분비학회지

A nineteen year-old boy with progressive enlargement of the joints and distal extremities, clubbing, coarse facial features and hyperhidrosis was investigated. In physical examination, thickening of the scalp with furrowing (cutis verticis gyrata) and greasy thickening of skin (pachyderma) was prominent. His endocrine profile was normal. Radiological studies demonstrated bilateral symmetrical periosteal new bone formation with acroosteolysis and incidental microadenoma of pituitay gland. After extensive investigation to exclude systemic and endocrine causes, the patient was diagnosed as pachydermoperiostosis (PDP). PDP is a rare syndrome manifested clinically by finger clubbing, extremity enlargement, hypertrophic skin changes, and periosteal bone formation. The pathogenesis of the disorder has not been clarified though few endocrine abnormalities were seen. To aware of these clinical phenotype would help to differentiate PDP from acromegaly.

A Case of Cutis Verticis Gyrata due to Cerebriform Intradermal Nevus in the Neonate / 소아과

Cutis verticis gyrata(CVG) is a morphologic syndrome of the scalp characterized by folds and furrows resembling the surface of brain. The primary form of cutis verticis gyrata is commonly associated with a neuropsychiatric condition and a secondary form occurs as a response of inflammatory or neoplastic process. The patient was a 1-day-old girl, who had a 15x11 cm sized, convoluted mass over whole scalp. Skin biopsy from the lesion was consistent with cerebriform intradermal nevus. The baby girl was followed up as an outpatient with monitoring of the scalp lesion for 2 years and showed improvement of folds and furrows of the lesion.

A Case of Primary Essential Cutis Verticis Gyrata / 대한피부과학회지

Cutis verticis gyrata(CVG) is a descriptive term for a condition of the scalp in which deep furrows and convolutions are seen that resemble the outer surface of the cerebrum. The possible etiologies may be categorized as primary essential, primary nonessential, and secondary cutis verticis gyrata. This is based on history, physical examination, and histologic criteria with or without laboratory examinations. Herein we reported a case of primary essential cutis verticis gyrata with no associated disorders.

A Case of Primary Cutis Verticis Gyrata / 대한피부과학회지

Cutis verticis gyrata is a descriptive term for the condition characterized by ridges and furrows of the scalp resembling the convolutions of the brain. Cutis verticis gyrata can be categorized into primary and secondary types according to various etiologic factors and associated conditions capable of inducing the disease process. We report a case of essential primary cutis verticis gyrata in a 29-year-old male who did not have any other underlying or associated conditions.

Cutis Verticis Gyrata-Mental Deficiency Syndrome : A Patient with Generalized Epidermal Nevus / 대한소아신경학회지

We report a case of cutis verticis gyrata-mental deficiency syndrome associated with generalized epidermal nevus. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, scaphocephaly and dysmorphic face with scanty scalp hair, hypertelorism, long palpebral fissure, low nasal bridge, hyperplasia of ala nasi, low-set ears with convoluted fold, and partial obstruction of the nasolacrimal ducts. Multiple convoluted folds and furrows on the scalp were extended to eyebrows and nose. Both lateral ventricle with periventricular leukomalacia were dilated markedly and the corpus callosum was hypoplastic on brain MRI. The nature of the yellowish brown colored elevated skin nevi on the whole body was consistent with systemic epidermal nevus by pathological study.

Two cases of cutis verticis gyrata due to cerebriform intradermal nevus / 대한피부과학회지

Cutis verticis gyrata(CVG) is an unusual conformation of the scap characterized by the presence of folds and furrows due to thickening of the corium and the subutlneous tissue. In sccordance with etiological factor and associated findings, CVG occurs as primarary disease or secondary to a variety of local or systemic diseases. Cerebriform intradermal nevus(CIN) is a cause of CVG that can usually be recognized clinically and for a certainty histologically. We report two cases of CVG due to CIN. Not only did they have CVG due to CIN on the scalp, but also they had associated congenital nevi on the face and whole boispy, respectively.

A Case of cutis Verticis Gyrata due to Cerebri - form Intradermal Nevus / 대한피부과학회지

We report a case of cerebriform intradermal nevus. a cause of cutis verticis gyrata that clinically they resembled neurofibroma and revealed histopathologic finding consistent with intradermal nevus. The patient was a 6 year-old boy, who had a 17x18cm, soft, convoluted. pigmented mass over the parietal and occipital regions. The lesion had been present since birth and had been slowly increasing in size with convolution.