Dissimilar histological features in Peutz-Jeghers syndrome and Laugier-Hunziker syndrome

Nakhlé M Ayoub, Dermatologist,

Other Contributors:

October 07, 2003

Dear Editor

We read with interest the report by Lampe AK et al. [1] presenting a patient with Laugier-Hunziker syndrome (LHS) whom had been extensively investigated in order to rule out Peutz-Jeghers syndrome (PJS).

In the case presented by Lampe AK et al.[1] biopsy specimen of the lip was twice mislabled as consistent with PJS, which prompted clinicians to undertake repeated unnecessary investigations. It should be emphasized that while LHS may clinically resemble PJS, histological features are different and distinctive in each condition. Indeed lesions in LHS display increased basal keratinocytes melanin content without melanocytic hyperplasia in addition to superficial pigmentary incontinence with dermal melanophages.[2] In contrast, macules of the Peutz-Jeghers syndrome have the appearance of lentigines on biopsy, showing expansion of the melanocytic population, which accounts for the denomination “periorificial lentiginosis” commonly used to designate the lips and cutaneous lesions of this entity.[3,4] Of note is that questionable cases reported in the literature in whom no PJS or LHS diagnosis could be definitely ascertained had not undergone histological analysis of pigmentary lesions.[5]

While advances in genetics represent exciting breakthroughs and offer valuable tools for modern medicine, we believe that clinicians should refrain from routinely using genetic screening tests for diagnostic purposes when accurate diagnosis can be achieved through careful yet simple anatomo-clinical correlation.

References

(1) Lampe AK, Hampton PJ, Woodford-Richens K, Tomlinson I, Lawrence CM, Douglas FS. Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome. J Med Genet 2003;40:e77.

(2) Dupré A, Viraben R. Laugier’s disease. Dermatologica 1990;181:183-6.

(3) Calnan CD. The Peutz-Jeghers syndrome. Trans St John’s Hosp Dermatol Soc 1960;44:58-64.

(4) Ortonne JP. Les troubles de la pigmentation cutanée. In Dermatologie et maladies sexuellement transmissibles, 3rd edition, Saurat JH, Grosshans E, Laugier P, Lachapelle JM, (Eds). Masson, Paris, 1999:407-426.

(5) Gerbig AW, Hunziker T. Idiopathic lenticular mucocutaneous pigmentation or Laugier-Hunziker syndrome with atypical features. Arch Dermatol 1996;132:844-5.

Conflict of Interest

None declared