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CASE REPORT
Year : 2013  |  Volume : 14  |  Issue : 1  |  Page : 30-32

Blueberry muffin baby (dermal erythropoiesis) with non-ketotic hyperglycinemia


Department of Dermatology Venereology and Leprology, KLE's Hospital, Belgaum, Karnataka, India

Date of Web Publication23-Aug-2013

Correspondence Address:
Farhana Tahseen Taj
Department of DVL, KLE's Hospital, Belgaum - 590 016, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.116855

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  Abstract 

Blueberry Muffin Baby is term given to characteristic eruption in neonates, often present at birth, comprising widespread, purple, erythematous, oval or circular macules, papules and nodules reflecting dermal erythropoiesis seen in a number of congenital infections, notably rubella, cytomegalovirus, coxsackie B2 infection, parvovirus B19, congenital syphilis, toxoplasmosis, rhesus incompatibility. Nonketotic Hyperglycinemia (NKHG) is an inborn error of glycine degradation in which large quantities of glycine accumulate in body tissues, including CNS, and has been associated with "Blue-Berry Muffin" Baby. We report an infant with blue berry muffin lesions associated with Non Ketotic hyperglycemia (NKHG). To the best of our knowledge Blue berry muffin baby with Non Ketotic hyperglycemia has been rarely reported in Indian literature.

Keywords: Blueberry muffin baby, non-ketotic hyperglycemia, rhesus incompatibility


How to cite this article:
Taj FT, Sarin V. Blueberry muffin baby (dermal erythropoiesis) with non-ketotic hyperglycinemia. Indian J Paediatr Dermatol 2013;14:30-2

How to cite this URL:
Taj FT, Sarin V. Blueberry muffin baby (dermal erythropoiesis) with non-ketotic hyperglycinemia. Indian J Paediatr Dermatol [serial online] 2013 [cited 2019 Apr 24];14:30-2. Available from: http://www.ijpd.in/text.asp?2013/14/1/30/116855


  Introduction Top


The term blueberry muffin baby was initially coined by pediatricians to describe cutaneous manifestations observed in newborns infected with rubella during the American epidemic of the 1960s. [1] These children had generalized hemorrhagic purpuric eruptions that on histopathology showed dermal erythropoiesis. Since then, congenital infections comprising the toxoplasmosis, rubella, cytomegalovirus, herpes syndrome [2] and hematologic dyscrasias have classically been associated with blueberry muffin-like lesions.

Non-ketotic hyperglycinemia (NKHG) is an inborn error of glycine degradation in which large quantities of glycine accumulate in body tissues, including central nervous system and has been associated with "blueberry muffin" baby.


  Case Report Top


A 1½ month-old-male child, born out of a consanguineous marriage, to gravida 5, para 3, abortion 1 with live 1, mother with a history of Rhesus (Rh) incompatibility, delivered by lower segment cesarean section, presented with the complaints of asymptomatic red raised lesions over the right arm, back, left thigh and face since birth and with history of myoclonic jerks and tachypnea, after birth [Figure 1] and [Figure 2].
Figure 1: Multiple, widespread, erythematous, non‑blanchable and oval to circular papules and nodules present on upper limb

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Figure 2: Multiple, widespread, erythematous, non‑blanchable and oval to circular papules and nodules present on face

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On Examination

Multiple asymptomatic erythematous to dusky blue, non-blanchable, domed papules, present asymmetrically over the arms, face and back [Figure 3] and [Figure 4].
Figure 3: Pictures of the same child after 4 months of presentation: All the lesions have become flattened with hyperpigmentation

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Figure 4: Pictures of the same child after 4 months of presentation: All the lesions had become flattened, but hyperpigmented

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  Investigations Top


Peripheral smear showed normochromic blood picture with neutropenia with thrombocytosis. Serum ammonia: 81 mcg/dl. Carnitine/acylcarnitine profile showed normal total carnitine, low free carnitine and very low free/acylcarnitine ratio. Cerebrospinal fluid examination: Showed high levels of glycine. Urine examination: Normal (including for ketone bodies).


  Discussion Top


Blueberry muffin baby is the term given to characteristic eruption in neonates, often present at birth, comprising widespread, erythematous, purple, oval or circular macules, papules and nodules reflecting dermal erythropoiesis seen in a number of congenital infections, notably rubella, cytomegalovirus, coxsackie B2 infection, parvovirus B19, congenital syphilis, toxoplasmosis, Rh incompatibility, hereditary spherocytosis, ABO blood group incompatibility and twin-twin transfusion syndrome. [2],[3],[4],[5],[6]

Etiopathogenesis

Hematopoiesis in the newborn dermis was first documented in 1925 by Dietrich [7] and since then it has nearly always has been associated with some pathologic process beginning in-utero. Although the exact cause of prolonged dermal erythropoiesis is unknown, during normal embryologic development extramedullary hematopoiesis occurs in a number of organs, including the dermis; this activity persists until the 5 th month of gestation. Normally, leukocytes phagocytize the erythroblastic elements by 34-38 weeks gestation. The presence of blueberry muffin lesions at birth represents postnatal expression of this normal fetal extramedullary hematopoiesis. [8]

Characteristically, the blueberry muffin morphology presents as non-blanching, blue-red macules or firm, dome-shaped papules (2-8 mm in diameter). The eruption is often generalized, but favors the trunk, head and neck. The macules and papules are present at birth and generally begin to resolve soon after to leave light brown macules. Clearing usually occurs by 3-6 weeks after birth. Known conditions that cause extramedullary hematopoiesis include intrauterine infections and hematologic dyscrasias.

Histologically

These are foci of dermal erythropoiesis. The reticular dermis contains aggregates of nucleated and non-nucleated erythrocyte precursors, but generally no cells of myeloid/megakaryocytic type. [5]

Glycine encephalopathy (also known as NKHG) is a rare autosomal recessive disorder of glycine metabolism. It is the second most common disorder of amino acid metabolism. The symptoms are exclusively neurological in nature and clinically this disorder is characterized by abnormally high levels of glycine in bodily fluids and tissues, especially the cerebral spinal fluid.

Differential diagnosis of blueberry muffin lesions include congenital leukemia, neonatal neuroblastoma, congenital rhabdomyosarcoma, congenital langerhans' cell histiocytosis neonatal lupus erythematosus. [9]


  Conclusion Top


The blueberry muffin baby has been associated historically with congenital viral infections and hematologic dyscrasias. However, the differential diagnosis of neonatal violaceous skin lesions should be expanded to include several neoplastic and vascular disorders as well. Such lesions in a neonate may have serious systemic implications and require diagnosis by means of skin biopsy and laboratory evaluation.

 
  References Top

1.Barnett HL, Einhorn AH. Paediatrics. 14 th ed. New York: Appleton-Century-Crofts; 1968. p. 742.  Back to cited text no. 1
    
2.Fine JD, Arndt KA. The TORCH syndrome: A clinical review. J Am Acad Dermatol 1985;12:697-706.  Back to cited text no. 2
[PUBMED]    
3.Brough AJ, Jones D, Page RH, Mizukami I. Dermal erythropoiesis in neonatal infants. A manifestation of intra-uterine viral disease. Pediatrics 1967;40:627-35.  Back to cited text no. 3
[PUBMED]    
4.Bowden JB, Hebert AA, Rapini RP. Dermal hematopoiesis in neonates: Report of five cases. J Am Acad Dermatol 1989;20:1104-10.  Back to cited text no. 4
[PUBMED]    
5.Atherton DJ, Gennery AR, Cant AJ. The neonate. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 7 th ed. Singapore: Wiley Blackwell; 2004. p. 14.1-14.86.  Back to cited text no. 5
    
6.Hebert AA, Esterly NB, Gardner TH. Dermal erythropoiesis in Rh hemolytic disease of the newborn. J Pediatr 1985;107:799-801.  Back to cited text no. 6
[PUBMED]    
7.Dietrich H. Studien uber extramedullare Blutbildung bei Chirugichen Erkrankungen. Arch Klin Chirug 1925;134:166.  Back to cited text no. 7
    
8.Argyle JC, Zone JJ. Dermal erythropoiesis in a neonate. Arch Dermatol 1981;117:492-4.  Back to cited text no. 8
[PUBMED]    
9.Holland KE, Galbraith SS, Drolet BA. Neonatal violaceous skin lesions: Expanding the differential of the blueberry muffin baby. Adv Dermatol 2005;21:153-92.  Back to cited text no. 9
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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  In this article
Abstract
Introduction
Case Report
Investigations
Discussion
Conclusion
References
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