Article
A 67-year-old man presented with multiple asymptomatic nodules on his face, scalp, neck and upper trunk which began to appear at the age of 20 and increased in size and number. The patient suffered from hypertension, hearing problems, chronic bronchitis and glaucoma. His daughter has similar but less obvious skin lesions. He was a chronic smoker (>15 cigarettes/day) and alcohol drinker (>4 glasses of wine/meal).
Extra-oral examination revealed numerous skin-coloured nodules, particularly on his face and neck, together with well-defined hyperpigmented macules (Figure 1). There was neither cervical lymphadenopathy nor cranial nerve dysfunction.
Oral examination revealed no abnormalities apart from a fissured tongue with hyperplastic papillae.
Q1. Which is the most likely diagnosis?
A1: The answer to which is the most likely diagnosis?
(a) Lepromatous leprosy (LL) is a chronic bacterial infection with the acid fast bacillus (Mycobacterium leprae), rare in the developed world, but still seen. It is characterized by a variety of skin lesions, such as macules, papules and nodules, which are associated with increased facial skin thickness (leonine face) but not with pigmented café au lait lesions, as seen in our patient. Early cranial nerve involvement, such as thickening the greater auricular nerves and eye problems, are characteristic findings in leprosy, but were not seen in our patient, apart from his glaucoma diagnosed at 65 years of age.
(b) Neurofibromatosis type 1 (NF-1) is the diagnosis in the current case. It is characterized by the presence of numerous café au lait spots and various-sized nodules in the skin, whose distribution and time of onset are similar to this patient. The presence of similar lesions in the daughter's skin reinforces the heritage of this disease. His hearing problem was caused by an acoustic neuroma, a common finding in neurofibromatosis.
(c) Brooke-Spiegler syndrome (BS) is characterized by multiple skin tumours (cylindromas, trichoepitheliomas, spiradenomas) coming from the skin appendages, such as sweat glands and hair follicles. This condition can be inherited (autosomal dominant) and its lesions begin in early adulthood. Similarly, this patient began developing skin lesions on his face at the age of early 20 and had a daughter with identical lesions. His lesions are asymptomatic and benign and have remained unchanged for more than 40 years, as also seen in Brooke-Spiegler syndrome. In contrast, however, the skin nodules in our patient have been associated with pigmented lesions, while in the Brooke-Spiegler syndrome the association is with parotid adenomas.
(d) McCune-Albright syndrome is characterized by café au lait skin lesions, polyostotic fibrous dysplasia and an autonomous endocrine hormone excess causing premature puberty. Some differences are presented here as its skin lesions are usually unilateral, with variation in colour while, in this patient, the café au lait lesions were bilateral and more numerous with sharp margins. The facial disfiguration in McCune-Albright syndrome is due to the asymmetry from the facial bone fibrous dysplasia, while in our patient it was due to skin nodules. Bone fractures and cranial nerve compression due to fibrous dysplasia are commonly seen in this syndrome, but not in our patient. Hereditability has not been documented in the McCune-Albright syndrome, while similar lesions have been found in our patient's daughter.
(e) Lupus vulgaris (LV) is a common form of cutaneous tuberculosis (TB) and is characterized by painful nodules on the face, cheeks, ears and neck, often with pre-existing lung tuberculosis. Our patient suffers from chronic bronchitis due to smoking, not from TB. His skin lesions remained asymptomatic over the years, while the skin lesions of LV initially appear as small painless nodules, which gradually enlarge and form irregular plaques and ulcerate if left untreated. Cervical lymphadenopathy is a common finding in LV but was not seen in our patient.
Q2. Which characteristic(s) (clinical and/or radiographical) is/are not a hallmark of Neurofibromatosis 1?
A2 The answer to which characteristic(s) (clinical and/or radiographical) is/are not a hallmark of Neurofibromatosis 1?
(a) Impacted teeth can be found in patients of NF-1, but are not a characteristic finding, however, they may be a secondary consequence of delayed eruption due to a large intrabony neurofibroma.
(b) Neurofibromas on skin or in the oral mucosa are mandatory lesions for a diagnosis of NF-1 and their number and size increase with age.
(c, d) Pigmented spots of iris (Lisch nodules) and skin (café au lait) lesions are also characteristic. Skin pigmented lesions develop during the third year of age while the neurofibromas and iris lesions appear in early adolescence.
(e) Jaw alterations seen in NF-1 may include increased bone density, enlarged coronoid notch and mandibular foramen, decreased mandibular angle and widened inferior alveolar canal.