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Year : 2013  |  Volume : 10  |  Issue : 3  |  Page : 108-110

A case of hypothyroidism with excessive aberrant mongolian spots

Department of Pediatrics, Maharajhas Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India

Date of Web Publication6-Aug-2013

Correspondence Address:
V. S. S. Yerramilli Murty
Quarter No. B2, Maharajhas Institute of Medical Sciences, Nellimerla, District Vizianagaram - 535 217, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-0354.116135

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Association of hypothyroidism with excessive ectopic/aberrant mongloian spots is not reported in the literature till date. We herewith report, a 1-year-old male child who presented with clinical features of hypothyroidism with excessive ectopic/aberrant monglolian spots. Child is evaluated for hypothyroidism and found to have abnormal thyroid profile. Bone-age was less than chronological age. Cardiac evaluation revealed mild pericardial effusion. Child was started on thyroid hormone replacement therapy and advised follow-up.

Keywords: Ectopic mongolian spots, hypothyroidism, thyroid profile

How to cite this article:
Murty VY, Patel MR, Kishore V, Ram K D. A case of hypothyroidism with excessive aberrant mongolian spots. Thyroid Res Pract 2013;10:108-10

How to cite this URL:
Murty VY, Patel MR, Kishore V, Ram K D. A case of hypothyroidism with excessive aberrant mongolian spots. Thyroid Res Pract [serial online] 2013 [cited 2022 Aug 18];10:108-10. Available from: https://www.thetrp.net/text.asp?2013/10/3/108/116135

  Introduction Top

Association of ectopic/aberrant Mongolian spots with hypothyroidism is not reported in literature until date. We report a child with unusual excessive ectopic Mongolian spots with hypothyroidism and mental retardation.

  Case Report Top

A 1-year-old male child born to second degree consanguineous marriage presented with history of delayed milestone. Child was not able to sit or stand. He could not recognize his parents and had no social smile. History of constipation was present. Antenatal history was uneventful. History of Neonatal intensive care admission due to neonatal sepsis was present during new born period. Baby was on formula feed and buffalo milk. Family history was not significant. None of the family members had hypothyroidism. No significant maternal illness was present.

Examination revealed wide open anterior fontanel which was 3 cm × 3 cm in size. He had course facial feature and was lethargic. Skin showed multiple Mongolian spots on the buttocks, thigh, back, abdomen, hands, and feet. [Figure 1], [Figure 2] and [Figure 3] Anthropometry showed weight of 8 kg, length 71 cm, and head circumference of 44 cm. Developmental assessment revealed no neck-holding or social smile. There was gross global developmental delay. Generalized hypotonia was present. Deep tendon reflexes showed delayed relaxation. Liver was palpable 3 cm below right costal margin. Initial hemogram showed hemoglobin of 9 g%. X-ray wrist showed absence of carpel bones. Thyroid profile revealed T3-35 ng/dl, T4 - <0.30 μ/dl, thyroid stimulating hormone (TSH) was elevated and was >150 μIU/ml. Echo cardiogram showed mild pericardial effusion. Ophthalmology evaluation was normal. With a diagnosis of hypothyroidism, baby was started on thyroid hormone. Baby showed improvement clinically and his parents were advised to continue thyroid hormone replacement therapy and advised regular follow-up.
Figure 1: Excessive Mongolian spots on abdomen

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Figure 2: Mongolian spots on lateral aspect of abdomen

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Figure 3: Mongolian spots on lower limb

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  Discussion Top

In hypothyroidism, the skin may be cool and dry and there may be ichthyosis like changes. Sweating and sebum production are reduced and the skin tends to be pale both because of the dermal mucopolysaccharides and dermal water content. In addition, increased dermal carotene may appear as a prominent yellow hue on the palms, soles, and nasolabial folds due to carotenemia. Skin also appears coarsened and scaly and non-pitting edema will be usual finding. The evidence that thyroid dysfunctions often associate with skin alterations has been correlated with the capacity of thyroid hormones to directly affect skin cell activity by binding to their cognate nuclear receptors. [1] TSH is incompletely understood as a non-classical modulator of keratin expression. [2] Bodó et al. reported expression of thyrotropin receptor (TSH-R ) in human hair follicles and that such expression was limited to the mesenchymal cells of the pilosebaceous unit. [3] Currently available data suggest that TSH primarily acts on epidermis via a paracrine, epithelial-mesenchymal interaction loop. Intraepidermally generated TSH may stimulate intradermal TSH-R which then induces the release of secreted signals by which epidermal functions and gene expression patterns are indirectly altered. [4] Association of hypothyroidism and mongolian spot is not mentioned in literature till now. This association may coincidental finding but needs to be considered and noticed.

The typical Mongolian spot is noted at birth and presents as a uniformly pigmented blue green to blue gray irregular macule or patch with indefinite margins. The Mongolian spot is a congenital developmental condition also known as congenital dermal melanocytosis. It occurs due to melanocytes entrapment in the lower half to two thirds of the dermis during their migration from the neural crest to the epidermis during embryonic development. The blue color is caused by melanocytes, melanin-containing cells that are usually located in the epidermis but are in the deeper region of the skin known as the dermis in the location of the spot. Typical Mongolian spots occur in the sacrococcygeal region as pale-blue to slate-gray macular hyper pigmentation. Occasionally, however, they occur outside the lumbosacral region on places such as the middle or upper part of the back as aberrant Mongolian spots. [5] Mongolian spots are found in 96% of black children, 46% of Hispanic infant and 10% of white neonates. [6] Male and female infants are equally predisposed to Mongolian spot. Occasionally, it can become noticeable as late as 3 months of age. Mongolian spots are harmless and will fade away naturally within the first 3 years.

Ectopic Mongolian spots or aberrant Mongolian spots involve unusual areas such as the face or extremities. Differential diagnosis of mongolian spots includes blue nevi, nevi of Ota, and bruises. GM 1 gangliosidosis is known to be associated with mongolian spots. [7]

Review of literature revealed, no case reports or articles associating aberrant Mongolian spots and congenital hypothyroidism

  References Top

1.Cianfarani F, Baldini E, Cavalli A, Marchioni E, Lembo L, Teson M, et al. TSH receptor and thyroid-specific gene expression in human skin. J Invest Dermatol 2010;130:93-101.  Back to cited text no. 1
2.Ramot Y, Paus R, Tiede S, Zlotogorski A. Endocrine controls of keratin expression. Bioessays 2009;31:389-99.  Back to cited text no. 2
3.Bodó E, Kromminga A, Bíró T, Borbíró I, Gáspár E, Zmijewski MA, et al. Human female hair follicles are a direct, nonclassical target for thyroid-stimulating hormone. J Invest Dermatol 2009;129:1126-39.  Back to cited text no. 3
4.Bodó E, Kany B, Gáspár E, Knüver J, Kromminga A, Ramot Y, et al. Thyroid-stimulating hormone, a novel, locally produced modulator of human epidermal functions, is regulated by thyrotropin-releasing hormone and thyroid hormones. Endocrinology 2010;151:1633-42.  Back to cited text no. 4
5.Lee S, Kim DH, Lee G, Whang KU, Lee JS, Park YL. An unusual case of congenital dermal melanocytosis. Ann Dermatol 2010;22:460-2.  Back to cited text no. 5
6.Cordova A. The Mongolian spot: A study of ethnic differences and a literature review. Clin Pediatr (Phila) 1981;20:714-9.  Back to cited text no. 6
7.Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol 2011;56:98-100.  Back to cited text no. 7
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