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.

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.

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.

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.

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.

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.

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.

Milia: a review and classification.

Milia are frequently encountered as a primary or secondary patient concern in pediatric and adult clinics, and in general or surgical dermatology practice. Nevertheless, there are few studies on the origin of milia and, to our knowledge, there is no previous comprehensive review of the subject. We review the various forms of milia, highlighting rare variants including genodermatosis-associated milia, and present an updated classification.

Laparoscopic partial splenectomy for splenic epidermoid cyst.

The treatment strategy of the splenic cyst is controversial. Better understanding of the splenic segmental anatomy, need of splenic conservation, and advances in laparoscopic skills has made laparoscopic partial splenectomy a preferred treatment for splenic cysts. In this paper, we report a case of splenic epidermoid cyst managed successfully by laparoscopic partial splenectomy. Also, results of various treatment strategies were reviewed.

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.

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.

Congenital inclusion cyst of the subgaleal space: a case report.

BACKGROUND: Subgaleal cysts are epidermal cysts located under the galea aponeurotica. They are rare lesions but are commoner among the children of African descent. To the authors knowledge, none has been described in Kano, Northwestern, Nigeria. METHODS: We present the management of a 6 month old Nigerian boy with scalp swelling. RESULT: The scalp swelling was noticed soon after birth and was progressively increasing in size. There was no preceding fever or trauma to the scalp and no associated pain. At six months, the child could sit without support and had attained adequate neck control. Examination revealed a swelling over the anterior fontanelle, measuring 3x2cm. The swelling was hemispherical, firm, fluctuant, and non-tender. It was not pulsatile. Its size did not increase on crying. Diagnosis was confirmed by plain x-ray film and transfontanelle sonography. Total excision of the mass was carried out under general anesthesia and histology confirmed the diagnosis of epidermal inclusion cyst. The child was discharged home in good condition. CONCLUSION: Awareness of this lesion will avoid misdiagnosis and inappropriate treatment.

Epidermal cyst of median raphe.

Cysts of the penis are rare and references to them in standard textbooks are sketchy. A case report of a congenital epidermal cyst of the median raphe of the penis is presented; therapy involved excision of the mass. Review of the literature is given.

MR of epidermoids with a variety of pulse sequences.

PURPOSE: To assess the usefulness of fluid-attenuated inversion recovery (FLAIR) and constructive interference in steady state (CISS) sequences in depicting epidermoid tumors. METHODS: Six patients with surgically confirmed epidermoid tumors in the subarachnoid space were examined with T1-weighted MR imaging with a spin-echo sequence, and with T2- and proton density-weighted imaging with a fast spin-echo sequence, a FLAIR sequence, and a CISS sequence. In the qualitative analysis, three observers compared the five sequences for visibility of tumors and presence of artifacts. A quantitative analysis was also performed by measuring the contrast-to-noise ratio. RESULTS: On visual assessment, the FLAIR sequence depicted all tumors as hyperintense relative to cerebrospinal fluid. The CISS sequence depicted all tumors as hypointense relative to cerebrospinal fluid and was considered to show tumor extension better than the FLAIR sequence. At quantitative analysis, the mean contrast-to-noise ratios of tumor to cerebrospinal fluid on T1-, T2-, and proton density-weighted images, and on FLAIR and CISS sequences were 2.85, 3.41, 4.42, 16.13, and 20.23, respectively. The contrast-to-noise ratios for the FLAIR and CISS sequences were significantly higher than those for the T1-, T2-, and proton density-weighted sequences. The contrast-to-noise ratio was not significantly different between FLAIR and CISS sequences, although the CISS sequence was slightly superior. CONCLUSION: CISS and FLAIR sequences depicted epidermoid tumors in the subarachnoid spaces better than conventional spin-echo images did. The CISS sequence produced a relatively constant contrast between the tumors and less artifactual interference.

Congenital subgaleal (epidermoid) inclusion cyst of the anterior fontanel in a Mexican female child: case report.

A 30-month-old Mexican girl with an inclusion subgaleal cyst located over the anterior fontanel is described. This is the first such case ever diagnosed at our institution and, we believe, the first reported from Mexico. Radical excision of the lesion was accomplished. The internal table of the skull was eroded, but no intracranial extension was noticed. As the cyst contained no hair follicles nor any sebaceous or sweat glands, it was histologically classified as an epidermoid cyst. This is another example of such a lesion in an infant of non-African descent.