Congenital Epidermoid Cyst of the Liver: A Rare Entity Characterized by Antenatal Onset, Slow Postnatal Growth, and Consistent Histologic and Immunohistologic Features.

BACKGROUND: There are only 15 reported hepatic epidermoid cysts; they include patients presenting congenitally through adulthood, with varied speculations about pathogenesis. Aside from recently reported pancytokeratin staining, no other descriptions have included immunohistochemistry. Splenic epidermoid cysts were recently characterized as positive for HBME-1, p63, CEA, CK7 (luminal), and CK19. We interrogate 2 hepatic epidermoid cysts with a broad panel of immunohistochemistry, with the aim of elucidating histogenesis. METHODS: Archives were searched for "liver," "hepatic," and "cyst." Hepatic cysts lined by squamous epithelium were included. Clinical records, macroscopic findings, and hematoxylin and eosin and immunohistochemically stained slides were reviewed. RESULTS: We identified 2 patients with epidermoid cysts of the liver, first detected on antenatal ultrasound. Both were females and asymptomatic; neither had other congenital abnormalities. Cysts enlarged slowly after birth. Resection was at ages 2 and 6 months, done to avoid potentially more difficult surgery in the future. Cysts were unilocular (4.8 cm) and multilocular (7.0 cm). Both were lined by stratified nonkeratinizing squamous to focally transitional-like epithelium and surrounded by paucicellular fibrous stroma. In the multilocular cyst, hepatocytes and fibrous stroma populated septa. Epithelium was positive for HBME-1, p63, CK19, CEA, Cam5.2, and CK7, negative for EMA, D2-40, WT-1, calretinin, and Ca19-9. Cytogenetic analysis of one showed a normal female karyotype. During the study period, 22 other pediatric liver cysts were diagnosed. CONCLUSION: Hepatic epidermoid cyst is a distinct entity, rare but nevertheless constituting 8% of pediatric hepatic cysts at our institution. It is characterized by intrauterine onset and growth roughly commensurate with that of the fetus/infant; it is apparently unsyndromic. It may be unilocular or multilocular. It stains for an array of epithelial markers as well as HBME-1. Strong immunohistochemical overlap with splenic epidermoid cyst points to a shared pathogenesis and detracts from hypotheses that hepatic epidermoid cysts derive from hepatic elements.

Pediatric congenital buttock sinus tract:10-year experience in a single institution.

PURPOSE: To review our experience with pediatric congenital buttock sinus tract, and to conclude the clinical characteristics and management of the disease. METHODS: Twenty-two pediatric patients diagnosed with congenital buttock sinus tract were included. Medical records were reviewed, and the patients were followed up. Continuous variables were presented by median and range. Categorical variables were presented as frequencies and percentages. RESULTS: Among the 22 patients, there were 8 boys (36.4%) and 14 girls (63.6%). The median first onset age was 42 months, and the range was 5 months to 12 years old. Admission age was 69.5 months, with a range from 14 months to 12 years old. Overall prior treatment time was 11 months, ranging from 3 months to 11 years. Twenty-one patients had definite congenital dimples since birth, and later manifested with infection through the dimple. All patients came to the doctor with complaint of the infection. The number of invasive procedures ranged from 0 to 5, with an average of 2. Radiology could exactly display the morphology and show the termination as a retrorectal cyst. The surgical procedure was adopted trans-fistula tract, and the pathological results showed a dermoid cyst in 11 patients and an epidermoid cyst in 10 patients. During the follow-up period of 34.5 months (range, 2 months to 8 years), 19 patients were uneventful and 3 patients suffered recurrence. Two of them underwent a second operation and had no recurrence ever since. The third patient did not receive a second operation, and the refractory infection was still present. CONCLUSIONS: Pediatric congenital buttock sinus tract is rare and has a female predominance in the morbidity. Patients have a distinctive congenital dimple on the buttock with recurrent infection, and there usually exists a congenital sinus tract from the dimple to the retrorectal space. Total excision is the only method for the cure. The nature of the disease is a retrorectal developing dermoid cyst or epidermoid cyst.

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year-old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it. Imaging and biopsy showed a large, non-pulsatile venous malformation intermingled with the deep nevus. A low-abundance, heterozygous BRAF c.1799T>A (p.V600E) mutation was present in both gluteal and occipital congenital nevi; additional mutations in NRAS, GNAQ, GNA11, HRAS, or PIK3CA were undetectable. This is the first demonstration of a recurrent BRAF mutation in multiple large congenital nevi from the same individual, confirming that this malformation can have multiple genetic origins. Early constitutive activation of BRAF can therefore cause unusual associations of giant nevi with vascular malformations, indicating that both pigment and endothelial cell physiology may be affected by mosaic RASopathies.

Congenital Epidermoid Cyst Presenting as Isolated Painful Trigeminal Neuropathy: Indications for Neuroimaging in the Diagnostic Process.

This article reports a case of a cerebellopontine angle epidermoid cyst presenting as isolated painful trigeminal neuropathy. The indolent nature of these uncommon benign tumors leads to frequent delays in their presentation and diagnosis, with patients often initially undergoing dental procedures. This is illustrated in the present case reported here, which highlights the difficulties in identifying trigeminal neuralgia (TN), particularly in its early phases, and supports current recommendations for routine neuroimaging in suspected cases of painful trigeminal neuropathy, which, unlike classic TN, is caused by a disorder other than neurovascular compression (even in the absence of additional neurologic symptoms or signs) and is present particularly in younger patients with atypical features. Additionally, this case report offers a unique patient perspective of living with TN, with a detailed description by one of the authors of the nature of the pain and its impact.

A Pediatric Patient With an Orbital Respiratory Epithelial Cyst.

Respiratory epithelial cysts are rare orbital cysts that can arise secondary to choristomatous rests of respiratory epithelium. Approximately 15 congenital cases have been described in the literature, making it a rare disease entity. We present a case of a 14-month-old Middle Eastern male with a right infraorbital respiratory epithelial cyst. Magnetic resonance imaging of the brain and orbits revealed a right infraorbital cyst hyperintense on T1-weighted images and followed fluid density on T2-weighted images. This cyst was noted to displace the globe superiorly and inferior rectus muscle laterally. This cyst was excised using a transconjunctival approach. Histologically, the cyst wall was lined by ciliated columnar cells with interspersed mucus-containing cells and ciliated transitional epithelium was present, establishing the diagnosis of respiratory epithelial cyst. To our knowledge, this is the youngest patient with a respiratory epithelial cyst of the orbit reported in the literature.

Congenital Milium of the Nipple.

A 12-month-old girl presented with an asymptomatic, pearly nodule on the left nipple that had been present from birth and was currently 3 mm in diameter and growing. Assuming the diagnosis of congenital primary milium of the nipple, we took a "wait and see" approach. After 3 months, the pearl disappeared without any scarring.

Intracranial Intra-arachnoid Diverticula and Cyst-like Abnormalities of the Brain.

Primary intracranial cystic or cyst-like lesions include intra-arachnoid, epidermoid, dermoid, and choroid plexus cysts. Differentiation of these cystic lesions can usually be accomplished by imaging studies alone; however, some cysts are similar in appearance and require histopathology for definitive diagnosis. Clinical signs often reflect the location of the cysts within the intracranial cavity rather than the type of cyst. If clinical signs are significant and progressive, surgical removal is warranted and may be successful, although cystic contents could be harmful if allowed to contact surrounding brain parenchyma or meninges.

Scrotal pearl is not always a sign of anorectal malformation: median raphe cyst.

Pearls of meconium can be seen on the raphe of the scrotum and are considered as a sign of anorectal malformation (ARM). Scrotal pearls without ARM are rare in children and designated as median raphe cyst of the scrotum (MRC). A six-month-old boy with scrotal pearls without ARM is presented to discuss the clinical features and treatment modalities of MRC in infants.

Re-evaluation of histological findings of nonparasitic splenic cysts.

OBJECTIVE: The pathogenesis of nonparasitic splenic cysts (NPSCs) has not been clarified completely. The aim of this multinational and multicentre retrospective study was to further elucidate the origin of NPSCs. METHODS: From 1980 to 2006, 50 children and adolescents were surgically treated for NPSC at six paediatric surgical centres in four European countries. The initial histology report of 35 NPSCs, 22 epidermoid cysts, 11 pseudocysts or post-traumatic cysts and two mesothelial cysts was available. Additional re-evaluation, including immunohistochemistry, to detect cytokeratin, carcino-embrionic antigen and mesothelioma antibody in the inner surface of the cysts was carried out. Special attention was given to the possibility of preceding trauma to the splenic area and whether it played a role in the genesis of NPSC. RESULTS: The pathological re-evaluation showed 30 epidermoid cysts, four mesothelial cysts and one pseudocyst. Immunohistology revealed eight epidermoid and two mesothelial linings of the cysts in those 11 patients in whom pseudocyst was diagnosed originally. No pseudocyst was documented in those patients who had a history of previous blunt abdominal trauma but was not proved by ultrasound and computed tomography scan. CONCLUSION: In contrast with the prevailing belief, it has been demonstrated that NPSCs are congenital in origin, and there is no clinically proven evidence that trauma does play a role in their genesis.

Magnetic resonance imaging of intracranial malformations in dogs and cats.

Intracranial malformations may occur because of an inherent developmental defect or secondary to in utero injury to the brain with subsequent hypoplasia and atrophy. They can cause neurologic deficits in growing animals, although some anomalies may not produce clinical signs until adulthood. Malformations of the brain include hydrocephalus, hydranencephaly/porencephaly, holoprosencephaly, corpus callosum agenesis/dysgenesis, lissencephaly, polymicrogyria, meningoencephalocele, intracranial cysts, cerebellar malformations, and hamartomas. These conditions are defined and reviewed with an emphasis on their features in magnetic resonance images.

Trichilemmal cyst nevus of the scalp.

We report the observation of a 24-year-old woman presenting a plaque-like lesion of the occipital scalp with hair rarefaction. This lesion was congenital and consisted of numerous, agminated, very small, trichilemmal cysts. It remained stable since birth, slowly growing in proportion with the patient during childhood. We discuss the nosological status of this intriguing lesion and its relationship with the recently described trichilemmal cyst nevus.

A rare case of congenital epidermoid cyst of the hard palate.

Epidermoid cysts are benign conditions that are thought to derive from abnormally situated ectodermal inclusions in the oral cavity. They are generally found in hands, fingers, feet, ovaries and testicles but in oral cavity they represent a very rare event. This is the first case of an intraosseous epidermoid cyst situated in the hard palate. Healing was uneventful and there was no sign of recurrence in 2-years follow-up.

Congenital epidermoid cyst arising in soft palate near uvula: a case report.

Aberrant ectodermal tissues during the fetal period or acquired aberrant epithelial tissue due to trauma or surgery are thought to cause dermoid and epidermoid cysts. Their incidence is 7.0% in the head and neck region and only 1.6% in the oral cavity, where they mostly present in the floor of the mouth. On the other hand, they are extremely rare in the soft palate and uvula, and only six cases have been reported. Epidermoid cysts grow slowly and asymptomatically, and thus rarely cause oral dysfunction. However, cysts arising in the floor of the mouth can lead to developmental disorders due to impaired suckling and swallowing. This report describes a 4-week-old boy in whom an epidermoid cyst developed in the midline region of the soft palate close to the uvula. Decreased suckling ability led to a poor in body weight, so resection was performed at an early age. The histopathological diagnosis was epidermoid cyst.

Congenital penile masses.

A 2-month-old boy was referred to our department for evaluation of a double mass on the ventral aspect of the penile shaft. There were no associated signs or symptoms of urologic dysfunction. The patient underwent circumcision with complete resection of the masses under general anesthesia.

A case of non-involuting congenital haemangioma with multiple epidermal cysts.

While infantile haemangiomas are the most common tumours of childhood, rare congenital haemangiomas grow to maximum size at birth and then spontaneously and rapidly regress (rapidly involuting congenital haemangiomas). However, certain congenital haemangiomas, described recently as 'non-involuting congenital haemangiomas', evolve differently and do not regress. There are several options regarding the treatment of infantile haemangiomas, but few reports have addressed the treatments of non-involuting congenital haemangiomas, though a small number have recommended surgical excision. However, the treatments of non-involuting congenital haemangiomas with multiple epidermal cysts have not been investigated. Epidermal cysts can cause recurrent infection, and we suspect that recurrent ulceration might cause the implantation of epidermal cells into the dermis, and result in the development of multiple epidermal cysts. Currently, epidermal cysts are treated by surgical excision, which should reduce complication rates. Herein, we report our experience of treating repeatedly infected non-involuting congenital haemangioma with multiple epidermal cysts.

Profuse congenital milia in a family.

Milia are keratin containing dermal cysts and are seen very frequently in neonates. They generally resolve spontaneously within the first few months of life. However, the presence of congenital milia may also be associated with a number of inherited disorders. We present a family with congenital milia and no other associated abnormalities in whom the milia were profuse and more persistent than usual. A number of inherited disorders which may be associated with the presence of milia are also discussed.