Phakomatous choristoma: a case report and review of the literature

Phakomatous choristoma is a rare congenital lesion of the eyelid that can be clinically and/or histologically mistaken for a cyst, cutaneous adnexal neoplasm, or an ocular adnexal oncocytoma. Only 13 such cases have been previously described, mostly in the English language ophthalmic literature. Zimmerman reported the first case in 1971 and proposed the lesion to be of lenticular anlage origin, a theory that has been widely accepted. We report an additional case occurring in an 8-week-old male infant with a firm nodule of the right lower eyelid that was present since birth. A 15 x 12 x 2 mm circumscribed solid nodule with a homogenously white cut surface was surgically excised. Histologically, this lesion was comprised of cuboidal cells forming cystically dilated and irregularly branched ducts and cords within a densely fibrotic stroma. Also present were eosinophilic basement membranelike material, psammoma body-like calcifications and intraluminal degenerated ghost cells. The immunohistochemical profile of the epithelial cells included strong immunoreactivity for vimentin, focal weak staining for S-100, and negative staining for cytokeratin, epithelial membrane antigen, synaptophysin, and chromogranin. The irregularity of the ducts and cords of epithelial cells within the densely fibrotic stroma resembled an infiltrative neoplasm of cutaneous adnexal or lacrimal duct origin. However, the site of involvement, the peculiar basement membrane material, ghost cells, and immunohistochemical profile were features that helped to distinguish phakomatous choristoma from an infiltrative carcinoma. The correct identification of this lesion is essential to avoid an aggressive surgical excision, thus sparing the eyelid and lacrimal system. The purpose of this article is to bring attention to this rare entity, because it has not been described in either the dermatology or dermatopathology literature and furthermore, is not mentioned in any of the major dermatopathology texts.     

Phakomatous Choristoma in a 10‐Week‐Old Boy: A Case Report and Review of the Literature

Phakomatous choristoma (PC) is a rare benign congenital lesion of lenticular anlage. It presents in young patients as a firm subcutaneous mass in the medial eyelid or orbit and may raise clinical concern for neoplasms such as rhabdomyosarcoma, but its histopathology is distinct, consisting of dense collagenous stroma and eosinophilic cuboidal epithelial cells forming nests, tubules, cords, or pseudoglands. We present a case of PC in a 10‐week‐old boy to illustrate the unique clinical, histopathologic, and immunophenotypic features of this condition and to reaffirm that familiarity with this rare entity aids accurate diagnosis.     

Salivary Gland Choristoma (Heterotopic Salivary Gland Tissue) on the Anterior Chest Wall of a Newborn

Salivary gland choristoma (heterotopic salivary gland tissue) is a rare condition typically seen in the newborn period. This developmental heterotopia is generally nonprogressive, with little risk of malignant transformation. We present the second known reported case of a salivary gland choristoma located on the anterior chest wall. Knowledge of this rare entity will allow for accurate diagnosis and management of this benign anatomic variant.     

Epidermal Choristoma of the Tongue Mimicking a Congenital Melanotic Macule

We report the fifth case of epidermal choristoma of the oral cavity in a Caucasian newborn with a congenital melanotic macule on the dorsum of the tongue. Epidermal choristoma is an exceedingly rare and benign condition probably caused by a developmental abnormality. It is identified according to the presence of normal skin in an abnormal location. Histologically it is identified according to areas of stratified epithelium and hyperpigmentation of the basal layer along with cutaneous adnexal structures (hair follicles, sebaceous or sweat glands). The clinical presentation is variable, but most of the cases described presented with a congenital lingual pigmented macule. These lesions should be included within the differential diagnosis of congenital lingual macules and distinguished from other entities such as congenital lingual melanotic macules and melanocytic lesions. Surgical excision is the treatment of choice. Epidermal choristoma is a benign condition that probably is underdiagnosed because it is a new and rare entity, and dermatologists should be aware of it.     

Lichen planus affecting eyelid alone: a rare entity

Lichen planus of the eyelid alone is a rarely reported condition with just about 11 cases reported so far in the international literature. We report a case of lichen planus of single lower eyelid with characteristic histopathologic findings on eyelid biopsy. It is unusual to encounter a usually characteristic and often widespread entity like lichen planus occurring at only one site like an eyelid. Lichen planus of the eyelid should be included in the differential diagnosis of eyelid dermatitis.     

Congenital melanotic macules and Sebaceous Choristoma arising on the tongue of a newborn: epidermal choristoma?

Oral hyperpigmentation is a common event in older individuals, however, is exceptional in neonates (congenital melanotic macules). Conversely, 70-80% of people have sebaceous glands in the oral mucosa, with the tongue representing an ectopic location and termed sebaceous choristoma by some authors. We report a case that fulfills both conditions in a tongue lesion. A 1-month-old boy presented with a pigmented macula on his tongue noted at birth. An excisional biopsy was performed showing a lesion lined by an epidermal-like epithelium with basal pigmentation, under which, sebaceous glands, abortive hair follicles and ductal structures mimicking apocrine glands were found. Seven cases of congenital melanotic macules of the tongue have been reported, however, none of them showed sebaceous glands under the lesion. Furthermore, there has not been a reported case of sebaceous choristoma of the tongue present at birth. We present a case that shares clinical and histological features of both conditions and propose the name 'epidermal choristoma'.     

Complex limbal choristoma in nevus sebaceous syndrome

Excision of an epibulbar choristoma followed by amniotic membrane grafting was performed on a 3-month-old baby who presented with nevus sebaceous syndrome. Upon histopathologic examination, the excised mass was seen to be a complex choristoma, a rare ocular tumor. Amniotic membrane transplantation is currently the most acceptable modality of treatment of limbal choristoma, with good cosmetic outcome.     

Deep dermal granuloma annulare presenting as an eyelid tumor in a child, with review of pediatric eyelid lesions

A case of deep dermal granuloma annulare (GA) involving the eyelid of a child is reported. GA presenting in the periocular region is rare and may mimic other lesions. The differential diagnosis of pediatric eyelid lesions is reviewed.     

Hairy polyp of the oropharynx. A case report with speculation on nosology

The hairy polyp of the oronasopharynx is a rare congenital malformation that has been classified as a dermoid, teratoid, teratoma, or hamartoma in the past. A case of oropharyngeal hairy polyp is presented that occurred in a male neonate with severe intermittent respiratory obstruction. The precise nosology of this unusual malformation is discussed, with the speculation that it is classified as a choristoma.     

Complex ocular choristomas in linear nevus sebaceus syndrome: a report of two cases.

Two cases of linear nevus sebaceus syndrome (LNSS) are described in which ipsilateral facial nevus of Jadassohn was associated with complex ocular choristoma. One patient also had scleral osteomas, a rare occurrence in LNSS.     

A rare case of a periorbital respiratory (choristomatous) cyst

Respiratory cysts are benign lesions lined by normal respiratory epithelium. There are few reported cases localized to the orbit, while those of the eyelid are exceedingly rare. Respiratory cysts usually arise either from a non‐hereditary congenital malformation, where they are distinguished as choristomatous, or from trauma. Here, we report a case of a 53‐year‐old man who presented with a large right lower eyelid cyst that was histopathologically diagnosed as a respiratory cyst.     

Successful use of preserved sclera of eyelid reconstruction

Eyelid surgery involving resection of more than half the eyelid and formation of full-thickness defect requires not only reconstruction of the anterior lamella, but also reconstruction of the posterior lamella, including the tarsal plate and palpebral conjunctiva. However, no reconstruction methods are of complete satisfaction. We describe our successful experience with 5 cases of eyelid reconstruction using preserved sclera and a report of a typical case of them. Based on our 5 case experience and literature, we compared eyelid reconstruction using preserved sclera to reconstruction using nasal septal or auricular cartilage in terms of external appearance and functions of the eyelid. The outcomes for reconstruction using preserved sclera in all 5 of our patients have been favorable. Previous papers as to this method, even though small in number, also reported no functional and esthetic problems. This method is recommended for eyelid reconstruction due to the good results and its simplicity.     

Cutaneous neuromuscular choristoma: Case report and review of the literature

Neuromuscular choristoma, also known as benign triton tumor, is an uncommon developmental tumor composed of skeletal muscle and neural elements. The majority of cases reported have occurred in infants and have been generally associated with a large nerve, such as the brachial plexus or sciatic nerve. To date, only three cases of cutaneous lesions have been reported in the English literature. We describe a 28-year-old female presented with a soft, pedunculated papule on the presternal region since birth and review the literature of neuromuscular choristoma.     

Osseous choristoma in vitiligo

This article deals with a typical case of both the conditions vitiligo and osseous choristoma of the intraoral soft tissue. Because of the close association between vitiligo and other diseases, it is very important to have each patient thoroughly examined with regard to thyroid diseases, pernicious anemia, diabetes mellitus, and autoimmune phenomena. We have detected a very rare tumescence of mature bony tissue, such as described in literature in only 25 cases, so far.     

Desmoplastic tricholemmoma of the eyelid misdiagnosed as sebaceous carcinoma: a potential diagnostic pitfall

Background:  Sebaceous carcinoma (SC) most commonly presents on the eyelid and is frequently misdiagnosed both clinically and pathologically. Only very rare cases of desmoplastic tricholemmoma (DTL) of the eyelid have been reported.
Methods:  We present a case of DTL of the eyelid initially misdiagnosed as an invasive SC.
Results:  A 55-year-old man presented with a rapidly growing 5 mm erythematous lesion on his upper eyelid. Histologic examination showed a lobular, folliculocentric proliferation of palely eosinophilic to clear cells surrounded by peripheral basal cells with palisading. The central portion of the lesion appeared infiltrative with clear cells surrounded by a thickened basement embedded in a dense, collagenous stroma. However, the cells showed mostly uniform cytoplasmic clearing, lacking the multivacuolization or nuclear scalloping of sebocytes. In addition, a periodic acid Schiff stain was positive with diastase sensitivity, indicating cytoplasmic glycogen, not lipid. CD34 immunohistochemical staining was also positive, which has been reported in DTL but not in SC.
Conclusions:  SC is often misdiagnosed as other entities, but misidentification of other neoplasms as SC is less common; however, this is an important diagnostic pitfall, as it may result in unnecessary and disfiguring surgical treatment and consequent medical-legal liability. Therefore, DTL should enter the differential diagnosis of clear-cell neoplasms on the eyelid.     

Epibulbar complex choristoma and hemimegalencephaly in linear sebaceous naevus syndrome

Epidermal naevus syndrome is a group of congenital syndromes comprising epidermal naevi associated with a variety of developmental abnormalities of the ocular, nervous, skeletal, cardiovascular and urogenital systems. We describe a case of an 8‐month‐old boy with a brown alopecic plaque on his face and scalp and a vascularized epibulbar mass involving the entire cornea, which had been present since birth. Histopathological examination identified sebaceous naevus in combination with complex choristoma. Magnetic resonance imaging of the brain showed hemimegalencephaly.     

Cellular blue nevi of the eyelid: A possible diagnostic pitfall

Appropriate classification of melanocytic lesions in the eyelid region is important to avoid unnecessary surgery. Here we report 3 cases of cellular blue nevi in the lower eyelid, and make recommendations about approaching these challenging lesions. In each case, a diagnosis of cellular blue nevus was made using the following features: low mitotic rate, absence of necrosis, low Ki-67 reactivity, and mostly uniform HMB45 labeling. Furthermore, in each case there was either a prior diagnosis of melanoma or features worrisome for an atypical melanocytic lesion. For melanocytic lesions of the eyelid with histologic features suggestive of cellular blue nevus, the correct diagnosis may mean a more conservative surgical resection and less likelihood of ocular tissue sacrifice and disfigurement.     

Nevus sebaceus associated with major ophthalmologic abnormalities

Nevus sebaceus rarely occurs as part of a syndrome consisting of central nervous system and ophthalmologic abnormalities. We describe a case of nevus sebaceus associated with an epibulbar complex choristoma and colobomas of the optic disc and peripapillary choroid, and review the dermatologic, ophthalmologic, and neurologic literature on the nevus sebaceus syndrome. When associated with other developmental abnormalities, nevus sebaceus and epidermal nevus have erroneously been considered to be a single entity. In this article, we delineate and emphasize the ophthalmologic abnormalities associated with the nevus sebaceus syndrome.     

Intraepithelial sebaceous carcinoma of the eyelid misdiagnosed as Bowen's disease

BACKGROUND: Sebaceous carcinoma (SC) is well known for its ability to masquerade clinically and histologically as a variety of periocular conditions resulting in a delayed diagnosis. We present a series of periocular SC cases and discuss the difficulties in histopathological diagnosis when this tumor presents with a Bowenoid pattern of intraepithelial spread. METHODS: A retrospective case study of all patients with SC of the eyelid treated in our Hospital, from 1997 to 2004, was conducted. RESULTS: Eight patients were identified (four females and four males). Seven cases involved the upper eyelid. Initial clinical diagnoses included blepharitis (three cases), blepharoconjunctivitis (one case), cicatrizing conjunctivitis (one case), and lid lesions (two cases). Histopathologically, 87.5% of cases were misdiagnosed as Bowen's disease (BD) on the initial biopsy. Six of these cases showed no invasive disease on the initial biopsy and were eventually found to be invasive SC on subsequent excisions. In one case, the tumor was wholly in situ. Delay in diagnosis ranged from 0 to 56 months. CONCLUSIONS: SC should always be considered in the histological differential diagnosis of any eyelid lesion which resembles BD, particularly if the upper eyelid is involved or if multivacuolated cytoplasmic clear cell changes are seen.     

Cutaneous ganglion cell choristoma

We describe the histological, immunohistochemical, and ultrastructural findings of a cutaneous tumour composed of ganglion cells, without any other proliferating component. As ganglion cells are not normal components of the skin, we propose the term "ganglion cell choristoma" for this lesion. The differential diagnosis of related lesions such as cutaneous ganglioneuroma, well-differentiated metastases from neuroblastoma, autonomic ganglia entrapped by neurofibroma, and reactive processes, and the possible histogenesis of ganglion cell choristoma are discussed.