Letters to the editor
(a)
823
(c)
(b)
Figure 1 (a) Poliosis on the occipital and parietal areas. (b) Rhabdomyoma on the left ventricle at the heart ultrasound investigation. (c) MR. T2-xial images showing abnormal development and signal changes of the right occipital lobe, due to a giant tuber.
stromal iridei), originate from the ectoderm of the neural crest, but in tuberous sclerosis, hypochromia over the scalp is already evident at birth because of the strong difference from hair colour. This sign, highly unusual,1 or perhaps underestimated in the case studies, should be considered as a part of a major criterion of diagnosis, i.e., the hypomelanotic macules. The presence of four hypomelanotic macules over the skin is considered to be the main sign.5 We can suggest that one or more tufts of white hair indicated the need to search for other signs of neonatal tuberous sclerosis, such as a cardiac rhabdomyoma or brain amarthomas. C. Schepis,1,* M. Siragusa,1 A. Puzzo,2 C. Amato,3 M. Elia4 1
Unit of Dermatology, Oasi Institute, IRCCS, 2Unit of Cardiology, Oasi Institute, IRCCS, 3Unit of Neuroradiology, Oasi Institute, IRCCS, 4Unit of Neurology, Oasi Institute, IRCCS, Troina, Italy *Correspondence: C. Schepis. E-mail: [email protected]
References 1 Jozwiak S, Schwartz RA, Janniger CK, Michałowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998; 37: 911– 917. 2 McWilliam RC, Stephenson JB. Depigmented hair. The earliest sign of tuberous sclerosis. Arch Dis Child 1978; 53: 961–963. 3 Awan KJ. Leaf-shaped lesions of ocular fundus and white eyelashes in tuberous sclerosis. Sout Med J 1982; 75: 227–228. 4 Apibal Y, Reakatanan W, Chunharas A. Poliosis as the first clue of tuberous sclerosis. Pediatr Dermatol 2008; 25: 486–487. 5 Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624–628. DOI: 10.1111/jdv.12427
JEADV 2015, 29, 818–832
Sporotrichoid distribution of a malignant peripheral nerve sheath tumour Editor Malignant peripheral nerve sheath tumours (MPNSTs) are uncommon malignant spindle cell tumours that account for 5–10% of all soft tissue sarcomas.1 Approximately 50% of MPNSTs arise from neurofibromas with or without neurofibromatosis type 1 (NF 1).2 MPNSTs may manifest clinically with persistent pain, rapid enlargement and neurological deficit.3 We report MPNST in a patient having an unusually linear distribution of lesions over distal extremities clinically suggesting infectious dermatoses. A 64-year-old man working as a gardener presented with multiple rapidly progressive asymptomatic skincoloured raised lesions over medial border of right foot and lower part of right leg since 1 month. There was no history suggestive of NF in the patient or his family. He had no history of preceding trauma, radiation exposure, discharge of grains/pus from the lesions, bladder/bowel involvement, sensory or motor deficit. Cutaneous examination revealed multiple, fleshy, skin coloured as well as few erythematous, subcutaneous nodules varying in diameter from 2 to 4 cm, in a linear arrangement over the medial aspect of the right leg extending from the ball of the great toe to the middle one-third of the tibial shin (Fig. 1). Sensory and motor examination of upper and lower limbs and systemic examination were within normal limits. The differential diagnoses of sporotrichosis, actinomycetoma, linear cutaneous leishmaniasis and atypical mycobacterial infection were considered. The routine blood investigations revealed no abnormality. A punch biopsy was taken from a nodule over the right foot and sent for histopathological examination. H&E staining of the
© 2014 European Academy of Dermatology and Venereology
Letters to the Editor
824
Table 1 Immunohistochemical markers used in our case with their results Immunohistochemistry marker
Result
Vimentin
Positive
S-100
Positive
Cytokeratin
Negative
Leucocyte common antigen
Negative
Melan 4
Negative
Human melanoma black 45
Negative
Smooth muscle actin
Negative
Figure 1 Linear distribution of nodules over the right foot and lower leg.
Figure 3 Immunohistochemistry (4009) demonstrating S-100 staining.
Figure 2 Haematoxylin and eosin stain (1009) of the biopsy specimen showing fascicular arrangement of spindle-shaped cells with pleomorphic nuclei.
biopsy revealed mild epidermal hyperplasia with the dermis showing spindle to plump-shaped cells with pleomorphic nuclei with abnormal mitotic activity. These were arranged in sheets and fascicles replacing and involving the reticular and papillary dermis (Fig. 2) suggestive of a malignant mesenchymal tumour. Immunohistochemistry panel (Table 1) revealed vimentin and S-100 positivity (Fig. 3) which finally established the diagnosis
JEADV 2015, 29, 818–832
to be MPNST. Within 2 months, the lesions over the dorsum of foot rapidly increased in size and underwent spontaneous ulcerations, which required the patient to undergo an above knee amputation followed by palliative chemotherapy. In the general population, MPNSTs are exceedingly rare, with an incidence of 0.001%.4 MPNSTs generally occur in adulthood, typically between the ages of 20 and 50 years of age.5 Histopathologically, MPNST is composed of spindle cells arranged in fascicular or whorling patterns. It is also characterized by hypercellularity, widespread hyperchromatic nuclei, increased mitotic activity, atypical mitoses and the lack of differentiated cells.1 Even after radical surgical treatment MPNSTs have a dismal prognosis, with reported 5-year survival rates of
(a)
823
(c)
(b)
Figure 1 (a) Poliosis on the occipital and parietal areas. (b) Rhabdomyoma on the left ventricle at the heart ultrasound investigation. (c) MR. T2-xial images showing abnormal development and signal changes of the right occipital lobe, due to a giant tuber.
stromal iridei), originate from the ectoderm of the neural crest, but in tuberous sclerosis, hypochromia over the scalp is already evident at birth because of the strong difference from hair colour. This sign, highly unusual,1 or perhaps underestimated in the case studies, should be considered as a part of a major criterion of diagnosis, i.e., the hypomelanotic macules. The presence of four hypomelanotic macules over the skin is considered to be the main sign.5 We can suggest that one or more tufts of white hair indicated the need to search for other signs of neonatal tuberous sclerosis, such as a cardiac rhabdomyoma or brain amarthomas. C. Schepis,1,* M. Siragusa,1 A. Puzzo,2 C. Amato,3 M. Elia4 1
Unit of Dermatology, Oasi Institute, IRCCS, 2Unit of Cardiology, Oasi Institute, IRCCS, 3Unit of Neuroradiology, Oasi Institute, IRCCS, 4Unit of Neurology, Oasi Institute, IRCCS, Troina, Italy *Correspondence: C. Schepis. E-mail: [email protected]
References 1 Jozwiak S, Schwartz RA, Janniger CK, Michałowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998; 37: 911– 917. 2 McWilliam RC, Stephenson JB. Depigmented hair. The earliest sign of tuberous sclerosis. Arch Dis Child 1978; 53: 961–963. 3 Awan KJ. Leaf-shaped lesions of ocular fundus and white eyelashes in tuberous sclerosis. Sout Med J 1982; 75: 227–228. 4 Apibal Y, Reakatanan W, Chunharas A. Poliosis as the first clue of tuberous sclerosis. Pediatr Dermatol 2008; 25: 486–487. 5 Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624–628. DOI: 10.1111/jdv.12427
JEADV 2015, 29, 818–832
Sporotrichoid distribution of a malignant peripheral nerve sheath tumour Editor Malignant peripheral nerve sheath tumours (MPNSTs) are uncommon malignant spindle cell tumours that account for 5–10% of all soft tissue sarcomas.1 Approximately 50% of MPNSTs arise from neurofibromas with or without neurofibromatosis type 1 (NF 1).2 MPNSTs may manifest clinically with persistent pain, rapid enlargement and neurological deficit.3 We report MPNST in a patient having an unusually linear distribution of lesions over distal extremities clinically suggesting infectious dermatoses. A 64-year-old man working as a gardener presented with multiple rapidly progressive asymptomatic skincoloured raised lesions over medial border of right foot and lower part of right leg since 1 month. There was no history suggestive of NF in the patient or his family. He had no history of preceding trauma, radiation exposure, discharge of grains/pus from the lesions, bladder/bowel involvement, sensory or motor deficit. Cutaneous examination revealed multiple, fleshy, skin coloured as well as few erythematous, subcutaneous nodules varying in diameter from 2 to 4 cm, in a linear arrangement over the medial aspect of the right leg extending from the ball of the great toe to the middle one-third of the tibial shin (Fig. 1). Sensory and motor examination of upper and lower limbs and systemic examination were within normal limits. The differential diagnoses of sporotrichosis, actinomycetoma, linear cutaneous leishmaniasis and atypical mycobacterial infection were considered. The routine blood investigations revealed no abnormality. A punch biopsy was taken from a nodule over the right foot and sent for histopathological examination. H&E staining of the
© 2014 European Academy of Dermatology and Venereology
Letters to the Editor
824
Table 1 Immunohistochemical markers used in our case with their results Immunohistochemistry marker
Result
Vimentin
Positive
S-100
Positive
Cytokeratin
Negative
Leucocyte common antigen
Negative
Melan 4
Negative
Human melanoma black 45
Negative
Smooth muscle actin
Negative
Figure 1 Linear distribution of nodules over the right foot and lower leg.
Figure 3 Immunohistochemistry (4009) demonstrating S-100 staining.
Figure 2 Haematoxylin and eosin stain (1009) of the biopsy specimen showing fascicular arrangement of spindle-shaped cells with pleomorphic nuclei.
biopsy revealed mild epidermal hyperplasia with the dermis showing spindle to plump-shaped cells with pleomorphic nuclei with abnormal mitotic activity. These were arranged in sheets and fascicles replacing and involving the reticular and papillary dermis (Fig. 2) suggestive of a malignant mesenchymal tumour. Immunohistochemistry panel (Table 1) revealed vimentin and S-100 positivity (Fig. 3) which finally established the diagnosis
JEADV 2015, 29, 818–832
to be MPNST. Within 2 months, the lesions over the dorsum of foot rapidly increased in size and underwent spontaneous ulcerations, which required the patient to undergo an above knee amputation followed by palliative chemotherapy. In the general population, MPNSTs are exceedingly rare, with an incidence of 0.001%.4 MPNSTs generally occur in adulthood, typically between the ages of 20 and 50 years of age.5 Histopathologically, MPNST is composed of spindle cells arranged in fascicular or whorling patterns. It is also characterized by hypercellularity, widespread hyperchromatic nuclei, increased mitotic activity, atypical mitoses and the lack of differentiated cells.1 Even after radical surgical treatment MPNSTs have a dismal prognosis, with reported 5-year survival rates of
