Blueberry muffin baby P61.8

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 29.10.2020

Synonym(s)

Cutaneous extramedullary haematopoiesis; Torch Syndrome; TORCH syndrome

Definition
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The term "blueberry muffin" refers to skin changes that are often characterized by blueberry-like efflorescences shimmering through the skin. It is a transient cutaneous extramedullary haematopoiesis occurring exclusively in the neonatal period as a result of a serious underlying disease which leads to the temporary reactivation of embryonic or fetal haematopoietic mechanisms after birth.

TORCH is the acronym for the following pathogens: Toxoplasma gondii, Other (Treponema pallidum, Hepatitis B, Zoster), Rubella virus, (C)ytomegalovirus, Herpes simplex virus.

Etiopathogenesis
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Fetal infectious diseases or diseases of the mother during pregnancy(toxoplasmosis, rubella, herpes, zoster, cytomegaly), haematolytic diseases of the fetus and resulting anaemia and neoplasia are described.

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Manifestation
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Postnatal or in the neonatal period.

Localization
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Trunk, face, extremities, palmae, plantae.

Clinical features
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During birth or shortly after birth (especially 24-48 hours post partum) suddenly petechiae, disseminated or densely standing red to reddish-brown spots, papules and plaques; blueberry-coloured or reddish ecchymoses develop. Often acrocyanosis.

Laboratory
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Left shift in the differential blood count.

Histology
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Edematous loosening of the perivascular and periadnexial spaces of the middle or deep dermis. Often infiltrates of different neoplastic proliferations or immature cells of erythropoiesis, granulopoiesis or thrombocytopoiesis.

Diagnosis
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Clinic, histology, differential blood count, pathogen detection if necessary.

Therapy
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Treatment of the underlying disease. Spontaneous regression of the efflorescences.

Internal therapy
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Red cell concentrates if necessary.

Literature
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Bowden JB et al (1989) Dermal hematopoiesis in neonates: report of five cases. J Am Acad Dermatol 20: 1104-1110
Hodl S et al (2001) Blueberry muffin baby: the pathogenesis of cutaneous extramedullary hematopoiesis 52: 1035-1042
Kitagawa N et al (1989) Congenital alveolar rhabdomyosarcoma presenting as a blueberry muffin baby. J Dermatol 16:409-411
Meuleman V Degreef H (1995) Acute myelomonocytic leukemia with skin localizations. Dermatology 190: 346-348
Vozza A et al (2003) Late onset Blueberry Muffin Syndrome following congenital rubella. J Eur Acad Dermatol Venereol 17: 204-205
Weils AJ (1923) On blood formation foci in the prostate and sole of the feet of newborns and foetuses. Z Pediatrics 35: 1-9