A Case Report of Nevus Trichilemmocysticus / 罕见病研究

This article reports a case of nevus trichilemmocysticus. The patient, a 48-year-old man, presented with multiple filiform keratoses and nodules. Physical examination identified multiple subcutaneous papules and nodules on the scalp, filiform keratoses on the face and bilateral ears, in addition to linear blackheads on trunk and limbs. The patient also exhibited hair loss and hypoplastic tooth. Histopathology revealed trichilemmal cyst. Nevus trichilemmocysticus is a rare organoid nevus. We reviewed literature in order to raise the awareness of the syndrome.

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.

Nevus epidérmico verrucoso inflamatorio lineal: una revisión de la literatura / Inflammatory linear verrucous epidermal nevus: a review of the literature

El nevus epidérmico verrucoso inflamatorio lineal (NEVIL) es un tipo de nevus epidérmico queratinocítico, poco frecuente, de aparición predominante en la infancia, con preponderancia sobre el sexo femenino. Se caracteriza por la presencia de pápulas eritematosas descamativas de aspecto psoriasiforme, intensamente pruriginosas, que tienden a coalescer para formar placas que se distribuyen siguiendo las líneas de Blaschko. Suele presentarse de forma unilateral en extremidades inferiores y tiene pobre respuesta al tratamiento.

Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare type of keratinocytic epidermal nevus that predominantly appears in childhood and female sex. It is characterized by the presence of psoriasiform, scaly, intensely itchy erythematous papules that tend to coalesce to form plaques that are distributed along Blaschko's lines. It usually affects the lower extremities unilaterally, and responds poorly to treatment.

Psoriasis linear y liquen estriado: una asociación rara entre dos dermatosis lineares / Linear psoriasis and lichen striatus: a rare association between two linear dermatoses

Resumen: La psoriasis linear y el liquen estriado son dos dermatosis de distribución linear por su localización sobre las líneas de Blaschko. Aunque estas dos enfermedades comparten algunas características, su asociación no es común y su diagnóstico en algunas ocasiones puede ser un reto. Presentamos el caso de una paciente pediátrica que desarrolló las dos patologías, con adecuada respuesta al tratamiento con corticoides tópicos.

Abstract: Linear Psoriasis and Lichen Striatus are known as linear dermatoses for their distribution along the Blaschko lines. Although they share some characteristics, their association is not common and accurate diagnosis can sometimes be a challenge. We present the case of a girl who develops two linear dermatoses, with adequate response to topical corticosteroids.

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.

Systematized verrucous epidermal nevus partially responsive to acitretin: A case report

@#<p style="text-align: justify;">A 5-year-old female presented a 4-year history of generalized well-demarcated asymptomatic brown to dark brown thin verrucous plaques with a Blaschkoid distribution. Histopathology was consistent with an epidermal nevus. Patient was diagnosed to have systematized verrucous epidermal nevus. Due to the extent of the lesions, surgical management was not feasible. Hence acitretin was given which showed partial decrease in the thickness of the lesions.</p>

A Case of Cap Polyposis with Epidermal Nevus in an Infant

Cap polyposis is extremely rare in children. We report a case of an 11-month-old male infant who visited our hospital because of rectal prolapse and small amount of hematochezia lasting several days. He also had an epidermal nevus in the sacral area. Colonoscopy showed erythematous, multilobulated, circumferential, polypoid lesions with mucoid discharge from the rectum. He was diagnosed with cap polyposis by endoscopy and histologic examination. He was treated with surgical resection, and was closely followed up. In the relevant literature, there is no report of cap polyposis in an infant. We report the first case of cap polyposis in the youngest infant.

Nevo verrucoso epidérmico / Verrucous epidermal nevus

El nevo verrucoso epidérmico es un desorden hamartomatoso del desarrollo epidérmico. Presentamos el caso de un varón de 9 años, quien consulta por una placa verrucosa en la cara interna del tobillo derecho. La histopatología demostró un nevo verrucoso epidérmico. Se realizó extirpación quirúrgica sin complicaciones ni recidivas. Existen múltiples variedades clínicas y opciones terapéuticas del mismo, dependiendo de la extensión de la lesión.

Verrucous epidermal nevus is a hamartroma disorder of the ectodermal development. We report a 9 years old male that developed a verrucous plaque on the internal part of the right ankle. Histopathological study reveled verrucous epidermal nevus. A surgical removal was performed without complications or recurrence. There are multiple clinical variations and treatments options, depending on the extension of the lesions.

Comments to "Localized Darier's Disease Mimicking Lichen Simplex Chronicus on the Back" / 대한피부과학회지

No abstract available.

A Case of Systematized Inflammatory Linear Verrucous Epidermal Nevus with Mandibular Hypoplasia / 대한피부과학회지

Inflammatory linear verrucous epidermal nevus (ILVEN) is an uncommon variant of verrucous epidermal nevus, clinically characterized by erythematous and hyperkeratotic verrucous papules with a typical linear arrangement. Most reported cases present as solitary lesions, but systematized ILVEN is rare. Epidermal nevus syndrome is a congenital disorder in which epidermal nevi are associated with abnormalities in other organ systems. However, ILVEN has been reported rarely in association with such abnormalities, including those of the skeleton. Here we report a rare case of systematized ILVEN presenting with concomitant mandibular hypoplasia.

Two Concurrent Facial Epidermal Nevi without Systemic Abnormalities: Nevus Sebaceus and Nevus Comedonicus

Epidermal nevi (EN) are hamartomatous lesions derived from epidermal components originating from pluripotent cell mutations. They have been categorized according to their predominant component. The existence of >2 types of EN concurrently within a single area or within contiguous areas has been rarely reported. This report describes the case of simultaneous presence of a yellowish plaque on the left medial canthus and an aggregation of closed comedo-like papules on the right side of the cheek of a 15-year-old girl.

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.

Phacomatosis Pigmentokeratotica without Extracutaneous Abnormalities: A Case Study Involving a Preterm Baby

Phacomatosis pigmentokeratotica (PPK) is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies. A preterm male infant of only 830 g at 27 week gestational age had an organoid nevus showing sebaceous differentiation. Also, he had multiple speckled-lentiginous nevus. Correlating the observed clinical presentation with the histopathological findings, the diagnosis of PPK was established. There have been less than 10 cases of PPK without extracutaneous manifestation. We present an uncommon case of a preterm patient with PPK who had no extracutaneous abnormalities.

Systematized Inflammatory Linear Verrucous Epidermal Nevus / 대한피부과학회지

Inflammatory linear verrucous epidermal nevi (ILVEN) were first described in the literature, in 1971, by Altman and Mehregan. Most cases were reported as solitary lesions. In contrast, systematized ILVEN, involving wide areas of the integument, has only rarely been reported. A variety of treatment modalities has been reported, ranging from topical medications, such as potent corticosteroids or tretinoin 0.1% to variable procedures, including CO2 and pulsed dye laser, cryotherapy, and surgical excision. However, multifocal skin lesion is more difficult to treat. An 8-year old boy was presented with an extensive thick scaly plaques and patches, affecting the trunk and the four extremities sparing face. It developed when he was 3 years old, and he complained pruritus. On physical examination, linear, or whirl-like scaly plaques were seen, along with Blaschko lines. Pathologic finding was in accordance to ILVEN. We treated him with topical calcipotriol, tacrolimus and systemic acitretin. After 8 months, the lesion and symptoms improved.

Porokeratotic eccrine ostial and dermal duct nevus.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare variant of porokeratosis with characteristic histological feature of cornoid lamella involving the acrosyringium. We report a classic case of a 20-year-old male, who clinically presented to us with keratotic papules and plaque with pits, few having comedo like plugs, on right palm and sole since 1 year of age. A punch biopsy from palm was diagnostic as well as confirmatory showing cornoid lamella involving an eccrine duct which is the characteristic histopathological feature of PEODDN.

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%.

A Case Report of a Giant Epidermal Nevus on the Scalp

PURPOSE: Epidermal nevi are hamartomas of the skin with multiple clinical variants. Normally, epidermal nevi present at an early age, are found on the head and neck area, and have a female predominance. Only very rarely do epidermal nevi have an adult onset. Most lesions are small and giant Epidermal nevi (> 5 cm at its greatest diameter) are quite rare. Huge verrucous plaque was observed on the scalp of a 70-year-old man. He had been reclusive for a long time, and this problem might have played a crucial role in the development of the giant epidermal nevi. METHODS: A punch biopsy and MRI imaging were performed. The huge mass was resected. A local flap and split thickness skin graft was used for reconstruction. RESULTS: The histology examination revealed the characteristic findings of epidermal nevus. Postoperatively, the patient did not suffer from complications or recurrence. CONCLUSION: A rare case of a huge epidermal nevus on the scalp of an elderly man was treated with a surgical excision. This is the oldest patient reported with an adult onset epidermal nevus in Korea.

Nevus epidérmico lineal con hiperqueratosis epidermolítica: descripción de caso / Linear epidermal nevus with epidermolytic hyperkeratosis case description

Introducción: El nevus epidérmico es una anomalía del desarrollo epidérmico que puede afectar cualquier parte del cuerpo, aunque se cita el predominio en las extremidades. Si bien esta entidad no es infrecuente, la presencia de hiperqueratosis epidermolítica en la biopsia cutánea es un hallazgo relativamente poco común, como lo demuestra la literatura consultada.Caso Clínico: Presentamos el caso de un paciente de sexo masculino de dos años de edad, con el diagnóstico de nevus epidérmico verrugoso lineal unilateral afectando el hemicuerpo izquierdo, con evidencias histopatológicas de hiperqueratosis epidermolítica. Discusión: El nevus epidérmico lineal unilateral es una forma rara de nevus epidérmico y también es inusual la presencia de hiperqeratosis epidermolítica. Se presenta generalmente dentro de los 5 primeros años de vida y las lesiones son intensamente pruriginosas. Estos nevos son frecuentemente refractarios al tratamiento tópico y la extirpación quirúrgica puede ser una opción para mejorar los síntomas.

Introduction: Epidermal nevus is an anomaly of epidermal development that can affect any part of the body, although usually reported in the extremities. Although it is not uncommon, the presence of epidermolytic hyperkeratosis on skin biopsy is a relatively uncommon finding in the literature. Case report: We report the case of a 2-year old male diagnosed with unilateral linear verrucous epidermal nevus of the left hemisphere with histopathological evidence of epidermolytic hyperkeratosis. Comments: Unilateral linear epidermal nevi are a rare form of epidermal nevus, and are also unusual in the presence of epidermolytic hyperkeratosis. They usually occur within the first 5 years of life and the lesions are intensely itchy. These nevi are often refractory to topical therapy and surgical removal may be an option to improve symptoms.

A Nevus Comedonicus in the Genital Area / 대한피부과학회지

Nevus comedonicus is an uncommon skin disorder that clinically appears as linear groups of open comedones. A 6-year-old female patient presented with a nevus comedonicus accompanied by an epidermal nevus in her genital area. The histopathologic finding showed an atrophic, cystically dilated hair follicle containing abundant keratinous debris. She was treated with oral antibiotics. We report here on an unusual case of nevus comedonicus that occurred in the genital area.