Cutaneous Abrikossoff's tumour in coexistence with congenital deaf-mutism

ARTICLE

Auteur(s) : Anthony Karpouzis¹, Alexandra Giatromanolaki², Efthimios Sivridis², Anastassios Bounovas³, Dimitrios Karamanidis⁴, George Ntatidis⁵, Myrsini Karpouzis¹, Constantin Kouskoukis¹

¹Univ. Dept of Dermatology, Division of Medicine, Democritus’ University of Thrace, 92, Karaoli and Dimitriou str, GR-68100 Alexandropolis, Greece
²Univ. Dept of Pathology, Division of Medicine, Democritus’ University of Thrace
³Univ. Dept of Surgery, Division of Medicine, Democritus’ University of Thrace
⁴State Dept of Gynaecology-Obstetrics Clinic, University Hospital of Alexandroupolis
⁵State Dept of ENL Clinic, University Hospital of Alexandroupolis

Abrikossoff's neoplasm constitutes an entity of controversial histogenesis. Despite progress in immunocytochemistry, the denominations of schwannoma or granular cell myoblastoma continue to be reported, causing nosological confusion. Abrikossoff's tumour is characterized histologically by granular cell cytoplasm and may occur in the skin, tongue, oropharynx, palate, salivary glands, esophagus, thyroid, vocal cord, tracheobronchial tree, stomach, intestine (duodenum, cecum), genitourinary organs and vulva, cystic duct, muscles, as well as in any other visceral part of the body. 5% of Abrikossoff's tumour cases were malignant neoplasms evolving in the setting of benign lesions. Abrikossoff's granular cell entity might also be considered as a reactive lesion rather than as a true neoplasm [1]. Abrikossoff's growth in association with neurofibromatosis has already been reported and a common histogenesis has been suggested because of the same neuroectodermal origins. We report a skin Abrikossoff's tumour in coexistence with congenital deaf-mutism.

A 31-year-old female (Fitzpatrick's skin type V) presented because of the existence and recent increase in size of two elevated skin lumps (ellipsoid and well circumscribed), developing progressively (first appeared three months earlier). It concerned a smooth ulcerated nodule (2 cm × 3 cm) under the right breast (figure 1A) and a second ulcerated growth (2 cm × 2.5 cm) in the lower part of the central pubic area, exactly above the external genitals (figure 1B). After excision of both these tumescences, histology showed an epidermis characterized by pseudoepitheliomatous hyperplasia, voluminous neoplastic cells with abundant granulomatous cytoplasm and small spheroid and hyperchromatic nuclei in the interior of a cytoplasm full of speckled granulations (figure 1C, from a pubic area nodule section). Abrikossoff's tumour was diagnosed. Additionally, she suffered from congenital deaf-mutism, and could not talk. Haematological, biochemical, immunological, and androgen-ostrogen investigations as well a laryngoscopy and a bilateral breast ultrasound revealed no peculiarities.

In general, granular cell skin tumours (GCT) appear as a progressively increasing in size nodule, localized in particular on the head and neck. This nodule is of normal skin texture, yielding and flesh-coloured (rarely yellowish firm masses) and without subjective symptoms. Very rarely, it may be pruritic or painful. Also, the external skin surface may be verrucous or hyperpigmented. The ulcerated clinical morphology is exceptional and concerned the labium majora lesions.

The alpha-subunits of inhibin and calretinin (in addition to S-100 protein) are useful diagnostic markers for GCT. The enhanced calretinin expression in the tumour cells, with the hyperplastic squamous epithelium, suggest a role for calretinin in the tumour cell-squamous epithelium interactions [2].

Protein gene product 9.5 (PGP 9.5) has been expressed by GCT tumour cells. Based on PGP 9.5 expression by arrector muscles, it is supposed that granular cell smooth muscle tumours will also be positive for PGP 9.5. However, the combined expression (by GCT) of S-100 protein, CD68, NK I/C3 together, supports that GCT should be called granular cell nerve sheath tumours and further establishes their histogenetic link with Schwann cells or peineurial cells [3].

Our patient suffered from profound hearing loss (with a secondary inability to talk), whose onset (according to the patient's family's testimony) was thought to be prelingual or even congenital, while there were no other deaf-mutism cases in the family. Unfortunately, magnetic tomography investigation (for exploring the posterior fossa area) was not carried out in our patient [4].

The coexistence of Abrikossoff's tumour and sensorineural hearing loss with corresponding mutism in our patient might be linked to the abnormal function and/or expression of human paired box genes, or specific connexin genes [5, 6].

In conclusion, cutaneous Abrikossoff's tumour associated with congenital deafness-mutism, is reported for the first time. Possibly, a common genetic control encodes two disorders belonging in the same systemic neurocristopathy, whose gene may be a tumour suppressor, with progressively ensuing mutations responsible for the development of GCT in adulthood.

Acknowledgements

References

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