Research progress of ocular choristoma / 中国医师杂志

Ocular choristoma is composed of ectopic tissues with normal structures. The pathogenesis still remains uncertain. Histopathologically, it is a dense connective tissue mixed with epidermal appendages, smooth muscle cells, mature adipose tissue, lacrimal glands, lymph nodes, skeletal muscle fibers, cartilage and bone. Because of its low incidence, most of published literature are case reports. The clinical manifestations are non-specific and we need to distinguish it from other ocular masses. The choice of surgical resection depends on the ocular symptoms, the effect on appearance, and the need for clinical confirmation. This paper reviews the epidemiology, etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and treatment of ocular choristoma.

Síndrome de schimmelpennig. a propósito de un caso / Schimmelpennig syndrome. report of a case

RESUMEN El síndrome de Schimmelpenning es un desorden neurocutáneo sistémico raro caracterizado por nevo sebáceo extendido, de ubicación primordialmente craneofacial, y compromiso de diferentes órganos neuroectodérmicos. Los principales desórdenes del sistema nervioso central (SNC) comprenden retraso mental, convulsiones y hemimegalencefalia. Otras anomalías asociadas incluyen oculares, osteoesqueléticas, cardiovasculares y genitourinarias. Reportamos el caso de una paciente femenina de 4 meses de edad con lesiones cutáneas y sistémicas compatibles con Syndrome de Schimmelpenning - Feuerstein - Mims y RMN que muestra compromiso del SNC.

SUMMARY Schimmelpenning syndrome is a rare congenital neurocutaneous disorder characterized by extensive nevus sebaceous, mainly craniofacial, and abnormalities in different neuroectodermal organ systems. The most common central nervous system disorders are intellectual disability, seizures and hemimegalencephaly. Other associated anomalies include ocular, skeletal, cardiovascular and genitourinary. We report a four month old female patient with cutaneous and systemic lesions compatible with Schimmelpenning - Feuerstein - Mims syndrome and MRI showing central nervous system compromise. system compromise include seizures, mental retardation and anatomic alterations that include cranial asymmetry, hemimegalencephaly with asymmetric and dilated ventricles, and calcium deposit. We report the case of a four month old female patient with skin and systemic lesions compatible with Schimmelpenning syndrome and MRI showing its central nervous system compromise.

Epidermal Nevus Syndrome Associated with Ipsilateral Monostotic Fibrous Dysplasia: An Uncommon Skeletal Abnormality / 대한피부과학회지

Epidermal nevus syndromes are a group of congenital syndromes comprising epidermal nevi in conjunction with the central nervous system, ocular, musculoskeletal, and other organ anomalies. Skeletal manifestations in epidermal nevus syndromes are common, ranging from 50% to 66% of patients. However, fibrous dysplasia of the bone has been rarely described in association with epidermal nevus syndromes. Herein, we report a 46-year-old-male patient who presented with extensive epidermal nevi associated with monostotic fibrous dysplasia of the rib which is located ipsilateral to the skin findings.

Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features.

Epidermal nevus syndrome (ENS) is a rare disease, the pathogenesis of which is largely elusive. We, hereby, report an exclusive case of a 20-year-old man with verrucous ENS presented with dark colored papules and plaques along the Blaschko's lines present over the head and neck area along with fleshy growth in both eyes since birth. Limb length discrepancy and kyphoscoliosis were remarkable. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion confirmed complex choristoma. MRI brain revealed calcification in the right temporal lobe. Bilateral arachnoid cyst in the middle cranial fossa, scleral osteoma in the posterior part of the right eyeball, and deformed calvarium were evident on CECT skull and orbit. The present illustration emphasizes the importance of a punctilious work up of the case.

Nevos epidérmicos: estudio retrospectivo de 133 casos / Epidermal nevi: a retrospective study of 133 cases

Los nevos epidérmicos son disembrioplasias cutáneas de aparición congénita o durante los primeros años de vida. Clínicamente son lesiones hiperqueratósicas y verrugosas que pueden asociarse a manifestaciones esqueléticas, neurológicas y oftalmológicas, conformando el síndrome del nevo epidérmico.Presentamos 133 casos entre los cuales la forma clínica más frecuente fue el nevo simple seguido del NEVIL; el patrón histológico predominante fue el clásico, seguido del de hiperqueratosis epidermolítica, y la prevalencia del síndrome del nevo epidérmico fue del 2,21%.

Epidermal nevi are common skin lesions that may be present al birth or develop during earlychildhood. Clinically they are hyperkeratotic and verrucous lesions, and they may be associatedwith skeletal, neurologic and ophtalmic abnormalities.We present 133 patients among whom the most frequent clinical presentation was nevus simplexfollowed by ILVEN. The predominant histological feature was the classic pattern, followed by theepidermolytic hyperkeratosis pattern. The prevalence of the epidermal nevus syndrome was 2.21%.

Clinical analysis of two cases of epidermal nevus syndrome and a review of literature / 中华全科医师杂志

Clinical, radiological and pathological presentations in two children with epidermal nevus syndrome were analyzed and relevant literature was reviewed.Two patients both had typical epidermal nevus and abnormal cerebral radiography, which was associated with mental retardation, epilepsy, language and movement retardation.One case was complicated with an ocular tumor.Pathological investigations of the epidermal nevus revealed papilliform proliferation in squamous epidermis.The disorder may have a systemic involvement besides cutaneous lesions, with a predilection for the central nervous system.Early diagnosis and therapy may help to improve patients life quality.

A Case of Hypophosphatemic Rickets associated with Epidermal Nevus Syndrome

Epidermal nevus syndrome is a rare disease consisting of epidermal nevus and multisystem pathologic conditions associated with anomalies in the central nervous system, bone, eye, heart, vasculature and genito-urinary system. Hypophosphatemic rickets has been rarely observed in association with this syndrome. We report a case of hypophosphatemic rickets associated with epidermal nevus syndrome with review of the literature.

A Case of Diffuse Epidermal Nevi in the Neonate

Epidermal nevi are benign congenital hamartomas derived from the embryonal ectoderm. They may also be associated with anomalies of musculoskeletal, nervous, ocular, and rarely cardiovascular and urogenital system in an epidermal nevus syndrome. To find out these abnormalities, careful history taking, thorough physical evaluation, and long-term follow-up are advisable in a patient with wide spread epidermal nevus. We report a case of diffuse epidermal nevi involving the scalp, face, trunk, and limbs in a newborn.

A Case of Epidermal Nevus Syndrome associated with Developmental Delay and Hypophosphatemic Rickets

Epidermal nevus syndrome is a rare disease which includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, skin, and rarely, hypophosphatemic rickets which have been observed in association with epidermal nevi. We experienced a case of epidermal nevus syndrome. He presented with epidermal nevi and bilateral abdominal wall hernias at birth and developed right hemiparesis, mental retardation, and multiple fractures due to hypophosphatemic rickets. He died of pneumonia at the age of 6.

A Case of Epidermal Nevus Syndrome associated with Developmental Delay and Hypophosphatemic Rickets

Epidermal nevus syndrome is a rare disease which includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, skin, and rarely, hypophosphatemic rickets which have been observed in association with epidermal nevi. We experienced a case of epidermal nevus syndrome. He presented with epidermal nevi and bilateral abdominal wall hernias at birth and developed right hemiparesis, mental retardation, and multiple fractures due to hypophosphatemic rickets. He died of pneumonia at the age of 6.

A Case of Epidermal Nevus Syndrome Associated with Urogenital Abnormalities

The epidermal nevus syndrome is a disorder characterized by epidermal nevi and associated neurologic, skeletal, and other abnormalities. A 15-year-old female patient presented with extensive, bilateral systematized, verrucous plaques, involving the face, trunk, both extremities, and anogenital area. The onset of the lesions were at the age of 2 months. Abdominal CT showed the absence of the left kidney, teratoma of the right ovary and left ovarian cyst. This is a case of epidermal nevus syndrome, which was composed of extensive epidermal nevi, congenital solitary kidney, left ovarian cyst and right ovarian teratoma.

Epidermal Nevus Syndrome with Various Skin Manifestations

We report a case of epidermal nevus syndrome showing various skin manifestations improved with CO₂ laser and chemical peeling in a 11-year-old girl. Skin lesions were composed of linear verrucous plaques and numerous papillomatous papules on the face, neck, scalp and trunk, multiple congenital nevocellular nevi on the face, and extensive cafe au lait spots on the trunk. The associated findings of skeletal involvement were gingival hemihypertrophy and benign bone lesion of the 7th rib. CO₂ laser and chemical peeling MCA, 50% TCA) were applied to remove these skin lesions which improved considerably.

Epidermal Nevus Syndrome with Various Skin Manifestations

We report a case of epidermal nevus syndrome showing various skin manifestations improved with CO₂ laser and chemical peeling in a 11-year-old girl. Skin lesions were composed of linear verrucous plaques and numerous papillomatous papules on the face, neck, scalp and trunk, multiple congenital nevocellular nevi on the face, and extensive cafe au lait spots on the trunk. The associated findings of skeletal involvement were gingival hemihypertrophy and benign bone lesion of the 7th rib. CO₂ laser and chemical peeling MCA, 50% TCA) were applied to remove these skin lesions which improved considerably.

A Case of Epidermal Nevus Syndrome

We report a case of epidermal nevus syndrome. The patient was a 26-year-old female who had numerous linear verrucous plaques on her neck, upper back and anterior chest. Biopsy of these lesions revealed epidermal hyperkeratosis, acanthosis and papillomatosis. Variable sized cafe-au-lait spots were scattered around the verrucous nevi. The other associated findings were claw hand deformity and epilepsy. Electroencephalogram showed very irregular, random and slow waves confined to the right temporooccipital area.

A Case of Verruciform Xanthoma Transformed from Lesions of Epidermal Nrvus Syndrome / 대한피부과학회지

We experienced a case of 16-year-old female with verruciform xanthoma transformed from lesions of epidermal nevus syndrome. The biopsy specimen of yellowish brown to red verrucous papule on the right buttock showed 1) uniform and verrucous acanthosis without cytological atypia, 2) parakeratosis and hyperkeratosis,3) variable foci of superficial necrosis with crusting and microabscess in the granular layer, 4) rete ridge elongation and papillomatosis, 5) characteristic foam cells located within the papillary dermis, but not below the rete ridges. Our case was diagnosed verruciform xanthoma by histopathologic finding which occured as a secondary development in lesions of epidermal nevus syndrome.