Cutaneous manifestations of maternal engraftment in patients with severe combined immunodeficiency: a clinicopathologic study

Abstract

Summary:SCID is a heterogeneous group of disorders characterized by defective T cell and B cell function. Eczematous and morbilliform eruptions are common, and graft-versus-host disease (GVHD) due to maternal engraftment has been documented. We sought to better characterize SCID-related cutaneous disease observed prior to BMT and to compare the eruption to conventional GVHD. Medical records of 51 patients with SCID treated between 1982 and 1999 were reviewed. Ten of 51 (20%) had rash and evidence of maternal engraftment prior to BMT (study group). Eleven of 51 (22%) had no rash or evidence of engraftment pre-BMT but developed GVHD following transplant (control group). Skin biopsies were available for review for 8/10 of the study group and for 8/11 of the control group. Cutaneous findings consisted of a scaling, erythematous maculopapular eruption spread widely over the trunk and extremities, with near-erythroderma in some patients. Microscopically, biopsies from the study group differed significantly from controls. Key differences included parakeratosis (P р 0.01), psoriasiform hyperplasia (P р 0.04) and spongiosis (P р 0.04). The dermatopathologic findings of transplacental GVHD differ from the pattern of post-transplant GVHD. A 'psoriasiform-lichenoid-spongiotic' pattern with necrotic keratinocytes should trigger consideration of SCID and maternal engraftment in the dermatopathologic evaluation of eruptions of infancy. Bone Marrow Transplantation (2001) 28, 227-233. Keywords: severe combined immunodeficiency disease (SCID); bone marrow transplant (BMT); graft-versus-host disease (GVHD); maternal engraftment Severe combined immunodeficiency diseases (SCIDs) are a heterogeneous group of genetic disorders characterized by deficiency of both T and B cell functions. The mode of

Long-term survival in severe combined immune deficiency: The role of persistent maternal engraftment

“…5 Skin manifestation of graft versus host disease (GVHD) has been reported in 40% to 83% of engrafted patients. 5,8 Our patient had the chronic eczematous dermatitis form of skin GVHD, with a late onset at 4 years of age, but lacked other GVHD manifestations such as hepatic involvement, nephritis, Long-Term Survival In Severe Combined Immune Deficiency:…”

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

“…The presentation of infants with atypical complete DiGeorge anomaly may be confused with severe atopic dermatitis 20,21 ; Omenn syndrome in RAG1, RAG2 deficiency or Artemis deficiency 22 ; maternal T-cell engraftment in patients with severe combined immunodeficiency; or maternal T-cell engraftment in patients with complete DiGeorge anomaly. [23][24][25] The diagnosis of atypical complete DiGeorge anomaly hinges on the infant having features of DiGeorge anomaly, profoundly depressed numbers of naive T cells, and absence of maternal T cells. The distinction between typical and atypical complete DiGeorge anomaly is important with respect to thymus transplantation because the T cells in atypical complete DiGeorge anomaly can reject transplants.…”

Complete DiGeorge syndrome: Development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases

“…25,[29][30][31][32] However, in those cases the T cells did not respond to mitogens, and thus it was clear that the patients were severely immunodeficient. The rash and lymphadenopathy that develop late in patients with complete DiGeorge syndrome are similar to the findings in Omenn syndrome, [25][26][27][28] in maternal engraftment in infants with severe combined immunodeficiency (SCID), [33][34][35] and in maternal engraftment in infants with DiGeorge syndrome. 36 They all have rash, eosinophilia, increased IgE levels, diarrhea, and lymphadenopathy.…”