Congenital giant hairy nevi or congenital nevomelanocytic nevus (CNN) are heavily pigmented melanocytic nevi with raised surfaces , irregular borders, and heavy concentrations of hair that are visible at birth (Fig. 24.3). Approximately 20% involve the head and neck, of which over half have eyelid involvement [31]. Debate remains over the exact risk for malignant transformation to malignant melanoma; reports vary from 4.6 to 41% [32]. The larger numbers reported may be attributable to most of these series being reported from tertiary care centers that see more malignant transformations than benign lesions. A study at the University of Pennsylvania reported a 5.7% cumulative 5 year risk of developing melanoma in a large or giant CNN [33].

This transformation rate, along with a high mortality rate early after discovery of the malignant degeneration, has led to the recommendation for the prophylactic removal of these nevi to avoid future malignant transformation [24]. Due to their large size, full-thickness skin involvement, and proximity to eyelid margins, complete excision is functionally and cosmetically challenging. Laser therapy offers a better alternative since argon and Q-switched ruby lasers can target melanin. However this technique leaves potential nests of nevus cells for future malignant transformation. Additionally, loss of pigment following laser makes the clinical detection of change in color and potential malignant transformation in the nevi difficult.

The full-thickness excision of these lesions can be challenging. Besides simple excision with primary closure, full-thickness grafting, rotational flaps with or without tissue expansion, and microvascular free tissue transfer of muscle or composite tissue have been utilized in pediatric facial reconstructions. Each nevus requires a unique approach balancing surgical removal and reconstruction against the size and location of the nevus along with the risk of malignant transformation (see Chap. 13, Fig. 13.20).

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disease that affects the enzyme system responsible for DNA repair after damage from ultraviolet radiation. It is characterized by cutaneous, ocular, and neurologic abnormalities (Fig. 24.2) [2]. The earliest manifestations appear between the ages of 1 and 2 years, as sun sensitivity with easy sunburning and freckling. Over time, malignant transformation to cutaneous basal cell carcinoma, squamous cell carcinoma, and malignant melanoma occurs with the latter two malignancies being the most common cause of death in XP patients. Incidence of the disease is low in the USA (1/250000) however it is more commonly seen in patients of Japanese and Middle Eastern descent [34]. A total of 97% of all skin malignancies develop in sun exposed areas, mainly the face, head, or neck regions; the median age for first diagnosis of one of these malignancies is 8 years old [2]. Progressive mental deterioration, deafness, delayed growth, and hyporeflexia are neurologic abnormalities reported in 25% of patients [35]. Any ocular tissue exposed to light can exhibit changes, resulting in eyelid and conjunctival malignancies, with resultant ectropion, exposure keratopathy, corneal neovascularization and loss of vision [10–12].

The most common genetic defect lies in the reduction or elimination of nucleotide excision repair (NER) enzymes. This biochemical defect in fibroblasts results in abnormal DNA repair after UV-induced damage and sets the stage for eventual malignant transformation with continued light exposure [36]. The exact incidence of cutaneous and conjunctival malignancies in this condition is not well established, but Kraemer et al. found 88 patients with neoplasms among the 830 reported cases studied, for an incidence of 10.6% [2]. For lid malignancies alone, his literature review could not pinpoint an exact frequency or histopathologic verification, but it appears that squamous cell carcinoma was the most common, followed by basal cell carcinoma and then malignant melanoma. Again, this syndrome should be considered quite strongly in a child diagnosed with any cutaneous eyelid malignancy.

Basal cell nevus syndrome also known as Nevoid basal cell carcinoma , Gorlin syndrome, and Gorlin-Goltz syndrome , is a rare autosomal dominant disorder caused by a mutation in the PTCH gene (Patched) gene found on chromosome 9 with variable penetrance. It is characterized by the development of multiple basal cell carcinomas in the first and second decades of life. Other typical manifestations are jaw cysts (keratocystic odontogenic tumor, found in 75%), bifid ribs, mental retardation, cardiac fibromas, ovarian cysts/fibromas and testicular disorders. Facial features include frontal/temporo-parietal bossing, and mandibular prognathism. About 30% of affected individuals manifest ocular abnormalities [9, 37, 38]. Prominence of the supraorbital ridges, hypertelorism, canthal dystopia, strabismus, congenital cataract, congenital glaucoma, and colobomas of the choroid and optic nerve, and microphthalmia have been seen in patients with this syndrome [37, 38].

Basal cell carcinoma seen in basal cell nevus syndrome occur all over the body namely areas not exposed to the sun such as palms and soles of feet, whereas those in xeroderma pigmentosa occur almost exclusively in sun-exposed areas. Eyelid involvement is frequent in this condition, occurring in about 22% of cases. The upper lid is involved almost 3 times more than the lower lid, as opposed to the general non affected population where the lower eyelid is more frequently involved [39]. Lesions arise at a median age of 13 and bear a resemblance to trichoepitheliomas, except that they are widespread, centrally ulcerated, and large. The trichoepitheliomas seen in Brooke’s tumor concentrate in the nasolabial fold, are small, and do not ulcerate. These basal cell carcinomas are also highly aggressive with 25% of affected individuals requiring exenteration secondary to invasive malignancy in the orbit [40]. Other malignancies in this syndrome are rare, except for cerebellar medulloblastomas, which have been reported in some cases.

The linear nevus sebaceous syndrome , also known as Schimmelpenning syndrome , is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp. Central nervous system, ocular, skeletal, and cardiovascular anomalies are associated findings [41, 42]. Most cases manifest with a congenital nevus with minimal pigmentation. On histology, epidermal papillomatous hyperplasia is noted with overdevelopment of the sebaceous glands (Fig. 24.4). Clinically, the lesions appear as large, well-defined, yellow to orange in color, with a waxy, pebbly, papillomatous surface that frequently becomes more prominent around puberty [43]. Enlargement after this pubertal change is often associated with development of a secondary tumor, such as basal cell carcinoma or squamous cell carcinoma, and occurs in about 35% of patients [45].

This lesion was first described in in 1895 by Jadassohn as the cutaneous manifestation of a phakomatose syndrome characterized by the triad of linear nevus sebaceous, seizures, and mental retardation [43, 46, 47]. The ocular findings are myriad and occur in approximately 68% of patients [43, 44, 47, 48]. These include upper lid colobomas, ptosis, ectropion, epibulbar choristomas, lipodermoids, corneal leukoma, iris and choroidal colobomas, strabismus, and microphthalmos, as well as numerous other single-case associations. Most malignant degenerations occur within the nevus itself and are typically basal cell carcinomas with rare reports of sebaceous cell carcinoma and squamous cell carcinoma [45]. An estimated malignant transformation rate of 35% warrants complete surgical excision for lesions associated with the linear nevus sebaceous syndrome.

Kaposi sarcoma (KS) is a tumor commonly seen in acquired immunodeficiency syndrome (AIDS) occurring in approximately 50% of affected patients [49]. It presents with cutaneous lesions with or without internal organ involvement and is caused by an infection with Human Herpes Virus 8 (also known as KS-associated Herpes Virus KSHV). The viral cause for this tumor was established in 1994 [50]. Lesions in KS are reddish violaceous lesions that take the forms of macules, nodules, or patches that may be confluent. KS is not a true sarcoma (mesenchymal origin) as the name implies, histologic sections of the tumor reveal elongated spindle cells that form slits containing red blood cells [51]. Uncommon prior to 1982, when only 30 identifiable cases of ocular involvement could be identified, its association with AIDS has led to an epidemic of these cutaneous and visceral lesions [49]. KS infrequently results in significant morbidity or mortality.