Intraepidermal Epidermotropic Metastatic Melanoma: a Clinical and Histopathological Mimicker of Melanoma in Situ Occurring in Multiplicity

The distinction between primary melanoma and melanoma metastatic to the skin has major prognostic implications. We report a case of a 67-year-old male with a diagnosis of a superficial spreading melanoma (stage IB) rendered 6 years earlier who presented clinically with an atypical nevus on his left thigh. Histopathological examination showed an intraepidermal melanocytic proliferation that was interpreted as melanoma in situ. Subsequently, 45 additional pigmented macules appeared in crops over a 9-month period. Clinically and dermoscopically, these lesions were extremely polymorphic. Histopathological findings were compatible with melanoma in situ, as each lesion consisted of a wholly intraepidermal proliferation of markedly atypical melanocytes arranged singly and in nests. A complete gastrointestinal study showed multiple pigmented metastatic lesions throughout the stomach and small bowel, which supported a diagnosis of metastatic melanoma with gastrointestinal and epidermotropic skin involvement. Monosomy of chromosome 9 and a BRAF V600E mutation were detected in the primary tumor sample and in macro-dissected secondary lesions. No CDKN2A or CDK4 germline mutations were found. Intraepidermal epidermotropic metastases of melanoma have been rarely described in literature. In this case, histopathology alone was insufficient to distinguish metastatic melanoma from multiple in situ melanomas. The recognition of epidermotropic metastases should be based on the correlation between clinical, dermoscopic, histopathological and molecular findings.

Five Cases of Atypical Rickettsial Infections

Background: Rickettsia conorii is the most frequent species of RickettsiaI causing disease in Portugal. In general the disease manifests itself by fever, exanthema, headaches and the presence of an eschar. However atypical forms can be present and physicians should be aware. Aims: Analyse the atypical presentation of rickettsiosis. Material and Methods: Children admitted at the CHLC Hospital from 2000 to 2010 with atypical presentation of rickettsiosis. Clinical diagnosis was confirmed by serology and molecular techniques (PCR). Results: Five cases of children with a median age of 2 years, 1 of which female, were admitted between June and August. The diagnoses were: myositis (1), synovitis (1), cholecystitis (1), orchiepididymitis (1) and meningitis (1). Myositis developped with functional disability, CPK 9600 U/L, lower limbs’ edema, hypoalbuminemia (1,6 g/dL) and arterial hypertension. Synovitis developped with functional disability, synovial fluid increase and CRP 16,2 mg/dL. The child with cholecystitis had abdominal pain, intraabdominal fluid increase, leukopenia (1900/μL), thrombocytopenia (75000/μL) and CRP 15,3 mg/dL. Orchiepididymitis developped with testicle’s inflammatory signs, leukopenia (2900/μL), thrombocytopenia (90000/μL) and CRP 14,45 mg/dL. The patient with meningitis, who had pleocytosis (320 cells/μL), hyperproteinorrachia (284 mg/dL), hypoglicorrachia (36 mg/dL), presented only with fever and headaches. The tache noire and the classical triad were present in 3/5 cases. The clinical course was favourable in all cases. Antibodies against Rickettsia of spotted fever group were detected in 3/5 cases. In one patient Rickettsia conorii Malish strain was identified by PCR and sequencing. Conclusions: Rickettsial infection may present itself unusually. In a country of high prevalence, especially during summer months and in the presence of an inoculation eschar, it is of the uttermost importance to study the atypical presentations for a possible rickettsial infection.

Torpedo Maculopathy with an Anisometropic Amblyopia in a 5-Year-Old Caucasian Girl: Case Report

The aim of this study is to report a clinical case of asymptomatic female Caucasian children with torpedo maculopathy. A 5-year-old girl was referred to our clinic for routine evaluation. The ophthalmic examination revealed best-corrected visual acuity of 20/20 in both eyes, without any changes in the biomicroscopy. Fundus examination showed normal findings in one eye, whereas in the contralateral eye it disclosed, in the temporal sector of the macular region, a whitish, atrophic, oval chorioretinal lesion with clearly defined margins. Posterior evaluations documented the stability of the lesion. Torpedo maculopathy diagnosis is based on its characteristic shape and peculiar location. The differential diagnosis has to be established versus choroidal lesions (melanoma and nevus), congenital or iatrogenic hyperplasia of the retinal pigment epithelium (RPE) and particularly versus the congenital pigmented lesions associated with Gardner's syndrome.

Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type.

Melanoma and Satellite Blue Papule

The colors that are seen in dermoscopy depend on the anatomic level of the skin at which the chromophores are seen. Blue color can be found in a variety of melanocytic and nonmelanocytic lesions. An 89-year-old man presented with a 3-year history of a slow-growing, hyperpigmented patch located on the distal third of the right arm. Dermoscopy showed an atypical network, irregularly distributed globules, pigmented internal streaks and a milky-red area. Based on these findings a diagnosis of slow-growing malignant melanoma was made. Simultaneously, a well-defined blue papule was seen on the proximal third of the same arm. Dermoscopy disclosed a homogeneous blue pattern. After clinical and dermoscopic correlation our differential diagnosis for this blue lesion included cutaneous melanoma metastasis, blue nevus and foreign body reaction. The patient recalled its onset 75 years ago after a grenade explosion. We also discuss the blue lesion appearance under reflectance confocal microscopy and high-definition optical coherence tomography. Histopathological examination after excision of the hyperpigmented patch and blue papule revealed a melanoma in situ and a foreign body reaction, respectively. The diagnostic evaluation of a blue lesion should always rely on the integration of all data, especially clinical and dermoscopic features. Other non-invasive techniques, like reflectance confocal microscopy and high-definition optical coherence tomography can also be important aids for its differential diagnosis.