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A 3.5-month-old boy presented with a changing medium-sized congenital melanocytic nevus on his leg. Due to atypical features on dermoscopy and reflectance confocal microscopy (RCM), an excision of the area of concern was performed. Histopathology showed many of the pathological features usually associated with a diagnosis of melanoma in situ in older patients, but due to the young age of the patient, absence of mitoses, and the degree of atypia, a diagnosis of a dysplastic compound nevus arising in a congenital compound (predominantly dermal) nevus was favored. In our case, RCM corresponded to histopathology helped target the area of concern and map the clinical and subclinical components to facilitate an optimal biopsy.

Midline mucinosis was observed in a 14-year-old man, which was confined to the midline of the back and appeared as asymptomatic, nonindurated, hyperpigmented plaques. Skin biopsies showed prominent interstitial mucinosis with perivascular lymphocytic infiltration. A literature review of plaque-like mucinosis revealed 14 previous cases with this distinct presentation that may overlap with reticular erythematous mucinosis and connective tissue disease. Midline mucinosis has been previously reported in prepubertal children but is rare.

We present two female children aged 7 years with extensive multifocal venous malformations complicated by chronic localized intravascular coagulation. In both cases ultrasonography and magnetic resonance imaging revealed extensive venous malformations involving the skin, mucous membranes and pharynx, which were not apparent on clinical examination. Haematological investigations demonstrated persistent elevation of the D-dimer, consistent with chronic localized intravascular coagulation. The course of one patient was complicated by the development of multiple painful thromboses at distant sites following percutaneous sclerotherapy. Persistent elevation of the D-dimer occurring in association with large venous and veno-lymphatic malformations has been termed chronic localized intravascular coagulation, and is thought to occur due to thrombosis at sites of stagnant blood flow within venous malformations. It is of clinical concern due to the potential for transformation into serious thrombohaemorrhagic coagulation disorders, including disseminated intravascular coagulation. While previously described in association with large segmental venous malformations, these cases demonstrate the occurrence of chronic localized intravascular coagulation as a complication of disseminated multifocal venous malformations.

SUMMARY A 48-year-old woman presented with acute unilateral ischaemia of the left hand. She had a background of chronic peripheral neuropathic pain, palpitations, anaemia and an episode of superficial thrombophlebitis. Physical examination revealed non-blanching purple discoloration of her left fingers and her left thumb, index finger and thenar eminance appeared ischaemic. Digital subtraction angiography of the left hand demonstrated reduced flow. Skin punch biopsy histology was unremarkable. The diagnosis of Fabry disease was made on urine lipid profile analysis and confirmed by reduced peripheral blood leukocyte α-galactosidase A activity.

A 49-year-old man presented with a 20-year history of an asymptomatic reticular eruption on his upper trunk. On examination, there were well-demarcated orange-red patches with reticular margins and irregular central atrophy on the lateral chest and proximal upper limbs. Skin biopsies showed histological evidence of elastophagocytosis with scant lymphocytic inflammation. Elastin stains demonstrated focal loss of elastic fibers in the reticular dermis, consistent with mid-dermal elastolysis. Mid-dermal elastolysis is a rare disorder characterized by focal loss of elastic tissue in the mid-dermis. The etiology remains obscure. Reticular presentations of mid-dermal elastolysis have rarely been described and extend the clinical spectrum of dermal elastolytic disorders.

A 40-year-old woman presented with a delusion of warts on the forehead, for which she was applying podophyllin toxin. A skin biopsy was taken, which showed prominent mitotic figures in the basal and suprabasal layers of the epidermis and apoptotic keratinocytes. Histopathologically Bowen's disease was suspected, but was discounted after clinicopathological correlation was obtained and showed absence of epidermal atypia or disorganization. This case demonstrates the histological resemblance of podophyllin reaction to Bowen's disease. Differentiation of self-inflicted from organic skin disease may be difficult, especially where histopathological findings are confounded by cutaneous application of toxins.

A 51 year old female was referred for evaluation of a transient pruritic blistering eruption located on the trunk and extremities. She had a complicated medical background including rheumatoid arthritis and drug-induced lupus erythematosus from the TNF blocker adalimubab. Her medications included prednisone 4 mg/day and hydroxychloroquine 400 mg/day. On examination a few large tense blisters were noted and the Nikolsky sign was negative. A routine skin biopsy showed intraepidermal vesicles, eosinophilic spongiosis and significant subepidermal oedema, but no acantholysis. Direct immunofluorescence (DIF) showed IgG depositions in an intercellular pattern in the upper epidermis, and IgM depositions in a granular pattern at the dermo-epidermal junction. Indirect immunofluorescence on monkey oesophagus and rat bladder was negative, whereas salt-split skin showed positive staining for IgG in the roof of the blister. As it was difficult to establish a unifying diagnosis given these clinical and histopathological features, the auto-antigenic targets were studied by ELISA and immunoblotting techniques. ELISA showed IgG reactivity to the 165 kd desmoglein 1 antigen, but not to desmoglein 3. Immunoblotting to basement membrane components was negative. These results supported a unifying final diagnosis of pemphigus foliaceus. She has been treated with minomycin and topical corticosteroids and has had a benign course. This case demonstrates the concurrence of multiple serious autoimmune diseases, which represent an ongoing diagnostic and management challenge. Although the molecular pathogenesis of autoimmune blistering diseases is well understood, clinico-pathological correlation may not always be achieved with routine dermatohistopathology and immunofluorescence examination. This case demonstrates the utility of additional molecular techniques in differentiating blistering diseases, which has important implications for management and prognosis.