Background
Primary cutaneous indolent CD8‐positive lymphoid proliferation is an emerging entity characterized by slowly enlarging papules and nodules that are pathologically comprised of clonal ...nonepidermotropic medium‐sized atypical CD8(+) T‐cells. Although the majority of lesions are solitary and located on the ears, bilateral symmetrical presentations have been described and lesions may arise at other peripheral or ‘acral’ sites. Patients follow a benign clinical course and systemic involvement has not yet been observed. Despite this, some medical practitioners classify such lesions as peripheral T‐cell lymphoma, NOS, a category implying aggressive disease.
Objectives
We present three cases seen in our institutions and provide an update on a previously reported unique patient who continues to develop recurrent and multifocal skin lesions.
Results
Systemic disease progression has not been observed, even in the presence of recurrent and multifocal cutaneous disease.
Conclusions
Indolent CD8‐positive lymphoid proliferation of acral sites is a distinctive and readily identifiable entity and should be included in the next consensus revision of cutaneous lymphoma classification. Although cases described thus far have followed an indolent clinical course, dermatologists should remain guarded about the prognosis and full staging and longitudinal observation are recommended until this condition is better understood.
BRCA1‐associated protein 1(BAP1) inactivated melanocytic nevi are pink to tan and dome‐shaped in clinical appearance, resembling dermal nevi, but with distinct histologic features of two melanocytic ...subpopulations: larger atypical melanocytes and nests of smaller, blander nevoid melanocytes. Pedigrees with BAP1 mutations are at greater risk of various malignancies. We report the case of a 16‐year‐old boy with multiple benign‐appearing nevi, all demonstrating loss of BAP1 on immunohistochemistry. History revealed that his father had died of paraganglioma, which is also associated with BAP1 mutations.
IMPORTANCE Epidermolysis bullosa (EB) pruriginosa is a rare variant of dystrophic EB. It may manifest late in life and is characterized by intense pruritus, resulting in a phenotype resembling ...acquired inflammatory dermatoses. Dermatopathology textbooks include hereditary forms of EB among the “cell-poor” list of subepidermal blistering disorders. OBSERVATIONS We report a case of dominant dystrophic EB pruriginosa with late-onset cutaneous manifestations. A biopsy specimen showed subepidermal blistering with prominent inflammatory cells, including numerous eosinophils. Unfamiliarity with the distinctive clinicopathologic features of EB pruriginosa led to an initial erroneous histopathologic diagnosis of an acquired autoimmune blistering disorder. Direct immunofluorescence study results were negative for immune reactants. A strong clinical suspicion of hereditary EB pruriginosa led to mutation analysis of COL7A1, which confirmed a novel, heterozygous nonglycine missense mutation. Subsequently, 2 other family members who had nail dystrophy were also correctly diagnosed as having dominant dystrophic EB, highlighting the clinical spectrum of the disorder and the intrafamilial variability in disease presentation. CONCLUSIONS AND RELEVANCE The clinical features of EB pruriginosa are becoming more widely recognized, but dermatologists, dermatopathologists, and histopathologists should be aware that inflammatory infiltrates and late presentation are potential pitfalls in correctly diagnosing this subtype of hereditary EB.
Hereditary vitamin D–resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with ...alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147–2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child.
: Diabetes mellitus is associated with a range of dermatologic presentations, including granuloma annulare and necrobiosis lipoidica diabeticorum. Granuloma annulare occurs earlier than necrobiosis ...lipoidica diabeticorum and the association with diabetes mellitus is much weaker. We describe two children with diabetes who both developed granuloma annulare and later, necrobiosis lipoidica diabeticorum. We postulate that the early onset and transient nature of granuloma annulare, compared with the later onset and persistence of necrobiosis lipoidica diabeticorum, might account for the different apparent rates of association with diabetes mellitus.
Abstract Current thinking assumes most cutaneous squamous cell carcinoma arise from the surface epidermis. Uncommon pilar and tricholemmal carcinomas are well recognised and recently authors have ...drawn attention to uncommon squamous cell carcinoma with predominant follicular infundibular differentiation. In contrast we propose that follicular (infundibular-tricholemmal) squamous cell carcinoma is exceedingly common and can be defined as follows: cytologically malignant tumour, abrupt connections to the epidermis (at follicular infundibula), infundibular and/or tricholemmal differentiation and lacking co-existent Bowen's disease or distinctive clinical-pathological features of keratoacanthoma. Recognition that many cutaneous squamous cell carcinoma are of follicular origin has major implications for differential diagnosis, staging, prognosis, management and future research.
Abstract
BRCA
1‐associated protein 1(
BAP
1) inactivated melanocytic nevi are pink to tan and dome‐shaped in clinical appearance, resembling dermal nevi, but with distinct histologic features of two ...melanocytic subpopulations: larger atypical melanocytes and nests of smaller, blander nevoid melanocytes. Pedigrees with
BAP
1 mutations are at greater risk of various malignancies. We report the case of a 16‐year‐old boy with multiple benign‐appearing nevi, all demonstrating loss of
BAP
1 on immunohistochemistry. History revealed that his father had died of paraganglioma, which is also associated with
BAP
1 mutations.
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