Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome?
Article first published online: 3 MAR 2013
© 2013 The International Society of Dermatology
International Journal of Dermatology
Volume 53, Issue 1, pages e67–e69, January 2014
How to Cite
Bakhach, M., Abbas, O., Kibbi, A.-G., Kurban, M. and Jundi, M. A. (2014), Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome?. International Journal of Dermatology, 53: e67–e69. doi: 10.1111/j.1365-4632.2012.05532.x
- Issue published online: 18 DEC 2013
- Article first published online: 3 MAR 2013
Nevoid hypertrichosis describes a congenital circumscribed patch of terminal hair without other associated abnormalities. It usually occurs as a solitary circumscribed patch, but there are reports of multiple lesions associated with systemic abnormalities.1
A 14-year-old girl presented for the evaluation of multiple skin lesions that had been present since birth. She demonstrated several gradually enlarging, circumscribed patches of excessive hair growth, accompanied by diffuse lipoatrophy and a large epidermal nevus on the plantar aspect of the foot. The mother reported that her daughter had been conceived naturally and that her delivery had been uncomplicated. The subject was of appropriate height and weight for her age, without any psychomotor disability. None of her family members had similar lesions.
On examination, the patient was found to demonstrate patches of well-circumscribed, coarse, dark, terminal hypertrichosis on the right scapula, left arm, and left and right anterolateral thighs (Fig. 1a,b). She also had multiple areas of lipoatrophy on both the upper and lower extremities (Fig. 1a,b). A thick, linear, verrucous, hyperpigmented skin lesion involving the right toe and the plantar aspect of the right foot was also noted (Fig. 2).
To the best of our knowledge, few cases of multiple nevoid hypertrichosis have been reported in the literature.2–5 However, there have been rare reported instances of multiple nevoid hypertrichosis, accompanied by lipoatrophy and epidermal nevus. In 1989, Cox et al.2 reported a female patient with multiple areas of circumscribed nevoid hypertrichosis on the trunk and limbs, who also had lipoatrophy at some affected sites; however, this patient did not have epidermal nevus. In 1991, Rogers3 reported a female patient with scattered areas of hypertrichosis on the trunk and limbs and multiple areas of lipoatrophy. This patient also had epidermal nevus-like lesions, streaky hypopigmentation, and abnormalities of the pulmonary, gastrointestinal, ocular, and skeletal systems.
Whether the coexistence of the three different lesions is coincidental or reflects a genetic element remains unclear. A possible explanation proposed in the previous literature is that nevoid hypertrichosis may occur in a mosaic pattern and may be associated with other cutaneous diseases that show a similar segmental pattern as a possible twin spot phenomenon.6,7 Moreover, the majority of nevoid hypertrichosis cases reported in the literature referred to female patients, which raises the possibility that X chromosome inactivation may give rise to different patterns of functional mosaicism.8
Although epidermal nevi may affect some of the population as an isolated finding, they may occur in association with certain syndromes or represent mosaic forms of genetically inherited conditions.9 Another possible explanation, proposed by García-Doval et al.,10 concerns the coexistence of localized hypertrichosis and lipoatrophy after panniculitis. However, our patient did not show any clinical evidence of such a process.
In conclusion, the cause of multiple nevoid hypertrichosis in association with systemic findings is still unknown, and many of the mechanisms remain to be elicited. We think that our patient differs from the other reported cases because of the coexistence of three different types of lesion without psychomotor complications, unlike the case previously reported by Rogers.3 This is an extremely rare presentation that may raise the possibility of a new syndrome.
- 6Nevoid hypertrichosis and hypomelanosis. Eur J Dermatol2002; 12: 583–585., , , et al.