NEVUS COMEDONICUS SYNDROME

Sir,

Nevus comedonicus is an uncommon skin abnormality first described in 1895 by Kofmann who used the term “comedo nevus.” It comprises of groups of pits filled with black keratinous plugs resembling blackheads, with inflammatory acne lesions developing later. Nevus comedonicus is caused by a defect in the development of the hair follicle. Lesions may develop any time from birth to middle age, but are usually present at birth or develop before the age of 10 years. Men and women are equally affected. There is no racial predilection.[1]

An 8-year-old boy had presented to us with multiple coalescing circular pits involving his face since the age of 1 year. A detailed history from his father revealed that the child had poor vision since 6 years and poor scholastic performance. However, there was no history suggestive of cranial or skeletal involvement. He underwent cataract surgery at the age of 3 years. There was no history of similar skin lesions in the family. On examination, multiple circular honeycomb-type pitted scars ranging in size from 0.1 × 0.1 to 0.5 × 0.5mm predominantly involved the left side of the face extending up to the upper part of the nose and right cheek [Figure 1]. Within these pitted scars few were scattered comedones. The interfollicular skin was normal. There were no other skin lesions elsewhere in the body. Ophthalmic examination revealed horizontal nystagmus and a vision of 3/6. Nails and teeth were normal. There were no skeletal deformities.

Figure 1.

Multiple circular honeycomb type of pitted scars ranging in size from 0.1 × 0.1 mm to 0.5 × 0.5 mm seen predominantly involving the left side of the face extending up to the upper part of the nose associated with nystagmus

Routine hematological investigations including complete hemogram, biochemical parameters, liver function tests, and renal function tests were within normal limits. CT scan of the brain and X-ray of the spine were normal.

Histopathological examination revealed deep, wide invagination of acanthotic epidermis, filled with concentric lamellae of keratin. Hair shafts were occasionally seen in the dermis, below the lower part of the invagination. These histopathological features were consistent with the diagnosis of nevus comedonicus.

Based on clinical and histopathological picture a diagnosis of nevus comedonicus syndrome was made.

Epidermal nevus syndrome is a kind of a neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital CNS disorders. Clinical presentations include seizures, paresis, mental retardation, and developmental delay.[2] Nevus comedonicus (NC) usually occurs by itself but may be linked with a variety of systemic findings such as skeletal or ocular anomalies. Nevus comedonicus syndrome (NCS) is a well-defined disorder within the large group of epidermal nevus syndromes.[3] In patients suffering from NCS, the nevus is associated with noncutaneous developmental abnormalities, including ipsilateral cataract, skeletal malformation, CNS abnormalities, and trichilemmal cysts.[4] A differential diagnosis of atrophoderma vermiculatum can be considered but they usually present as reticulated depressions with narrow ridges of normal-appearing skin, giving a worm-eaten appearance.[5] In contrast to atrophoderma vermiculatum, the interfollicular skin is typically normal in the nevus comedonicus syndrome.[5]

Unlike nevus comedonicus, nevus comedonicus syndrome is a rare entity with very few reports[2,3,6,7] in the literature that thus merits the documentation. Since the number of cases reported is relatively low in the literature and several such cases should be existing in communities, reporting of these would enhance the quantum of reported cases that would in turn naturally enable us to elucidate the full spectrum of the disease.

To the best of our knowledge and after an extensive search in the literature, we have not found any case of the nevus comedonicus syndrome presenting with bilateral cataract. Hence, the case has been reported.