We present the case of an 8 year-old girl who presented to the out-patient department of a small hospital in Santiago Atitlàn, Guatemala, after maternal concern regarding progressive ocular lesions. The family was of Mayan heritage and spoke Tz'utujil and a small amount of Spanish. The history was unusual: since the age of 3 months the patient had suffered with persistent developmental delay as well as the appearance of multiple pigmented papular lesions on her face, neck, and forearms. Over time these lesions had enlarged and become progressively more numerous and raised, although were confined to sun-exposed areas. In the last year her mother had noted gradually enlarging corneal lesions bilaterally.
Following normal vaginal delivery at home with no pre-natal care, development had been limited to social smiling, sufficient fine motor skills to feed herself, infrequent speech of only single words, and an unsteady gait. Although a generally happy and smiling child, the patient had never been self-caring with regard to dressing and toileting, and was still wearing nappies.
She had 2 normal siblings, and there was no family history or other past medical history of note. The mother denied any consanguinity in the patient's recent lineage.
On examination the patient was smiling and playful, and appeared well-nourished. Large hyperkeratotic lesions were present on the cheeks and nose with some induration suspicious of actinic keratosis and early squamous cell carcinoma. There were also numerous hyper-pigmented lentigos and xerosis limited to sun-exposed sites. Marked corneal scarring was evident bilaterally (Figures , , ). There was no evidence of anaemia or overt signs of vitamin deficiencies such as rickets, and the mother and siblings appeared well nourished.
Figure 1 Frontal image of face, showing large hyperkeratotic lesions with some induration suspicious of actinic keratosis and early squamous cell carcinoma. Also numerous hyper-pigmented lentigos and xerosis on the entire front of the face. Marked corneal scarring (more ...)
Close-up of the face shows the corneal scarring and ulceration, as well as the diffuse hyperkeratotic lesions.
This left lateral view of the face shows the diffuse nature of the hyperpigmented lentigos on the face and neck, as well as demonstrating again the corneal damage and para-nasal hyperkeratosis.
Physical examination of the heart, lungs and abdomen was unremarkable. There was mild choreoathetosis of the right arm, and gait was broad-based and grossly ataxic. Eye movements exhibited rolling nystagmus, but were able to track large objects. The patient was constantly reaching to the ground, trying to pick up things and put them in her mouth – either a neuro-developmental problem, or possibly indicative of pica. Unfortunately no laboratory testing was available for further investigation.
Given the cutaneous, neurological and ocular features a presumptive diagnosis of Xeroderma Pigmentosum was made. As facilities for pathological diagnosis were not available an opinion was sought from international colleagues. There was consensus that the clinical features were those of a photosensitive dermatoses with Xeroderma Pigmentosum being the most likely given the striking cutaneous features.
The patient was offered referral to ophthalmology and paediatric specialists in Guatemala City, which was declined. The patient has subsequently been lost to follow up.