Phacomatosis Cesioflammea: A Case Report of a Newborn with an Unusual Mongolian Spot and Port Wine Stain

Joy Ishii Zarandy, DO,* Sara Clark, MD,** Katherine Shew, MD***

* Family Medicine Resident, 2nd year, AnMed Health, Anderson, SC **Pediatric Hospitalist, Greenville Health Hospital System, Greenville, SC ***Dermatologist, Anderson Dermatology and Surgery Center, Anderson, SC

Abstract Phacomatosis cesioflammea is a rare congenital cutaneous disorder that presents with aberrant Mongolian spot and port-wine stain in a newborn. About half of reported cases develop extracutaneous symptoms, especially involving the central nervous system, so early diagnosis is key in managing these patients so that appropriate referral to a specialist is promptly initiated.1 This case report documents the process of evaluating a newborn with an unusual Mongolian spot and port-wine stain. A thorough list of differential diagnoses, including simplex, arteriovenous malformations, infantile hemangioma, Klippel- Trenaunay syndrome and Sturge-Weber Syndrome, was ruled out before ultimately diagnosing the patient with phacomatosis cesioflammea. After a year of close neurodevelopmental monitoring, the patient has not manifested any systemic complications, and his prognosis remains good.

Introduction condition with similar presentation. This case patient’s vascular markings, nevus-simplex Phacomatosis cesioflammea is the most report documents the process of diagnosing a patches have indistinct borders, favor the common subtype of a group of rare newborn with phacomatosis cesioflammea and midline such as the nape of the neck or eyelids, congenital cutaneous abnormalities known subsequent management considerations. and resolve spontaneously. Arteriovenous as phacomatosis pigmentovascularis (PPV). malformation, another vascular cutaneous The Latin translation of phacomatosis Case Report finding, may present as macular-vascular A healthy term African-American male, born cesioflammea, meaning “bluish gray” and patches that generally possess a thrill and grow vaginally after an uncomplicated pregnancy to 5 “flame,” appropriately describes the classic over time. Infantile hemangiomas, the most a 23-year-old G1P1, presented with unusual appearance of congenital dermal melanocytosis frequently encountered type of , skin findings on initial newborn exam (Figure (Mongolian spots) and nevus flammeus (port- often appear at birth as telangiectasia with 1). An extensive Mongolian spot covered his 4 wine stain). Cutaneous lesions alone are surrounding pallor due to vasoconstriction. right flank, buttock, and thigh (Figure 2), and largely asymptomatic, but approximately 50% These lesions may resemble port-wine stains in a large port-wine stain extended from his chest of cases have systemic involvement, which early stages and then enlarge in the first few to the fingertips of the right extremity (Figure 6 usually presents within the first months of life.1 years of life before spontaneously resolving. 3). A 6 mm x 20 mm café-au-lait spot was For this reason, a complete physical, including also noted on the right lower back. Limbs were The prominence and unilaterality of the a dilated ocular exam by an ophthalmologist, symmetric, without leg-length or limb-girth patient’s port-wine stain, preferentially and close neurodevelopmental monitoring discrepancies. History and clinical exam were distributed to the right upper extremity, raised are imperative parts of management.1,2 otherwise unremarkable. Family history was concern for presence of an associated syndrome Furthermore, keeping in mind a broad significant only for eczema in his mother. such as Klippel-Trenaunay syndrome (KTS) differential is prudent when diagnosing any rare or Sturge-Weber syndrome (SWS). KTS is disorder so as not to overlook a more common The first task at hand was to formulate a list a congenital malformation of the capillary, of differential diagnoses. Vascular venous, and lymphatic systems in the such as port-wine stains are common findings extremities. Cutaneous findings classically in a newborn, either in the absence of or present with unilateral extremity enlargement in association with congenital cutaneous from underlying musculoskeletal hypertrophy, 3 syndromes. Port-wine stains are low-flow visceral hemangiomas, and venous varicosities.7 capillary malformations that present as SWS presents with facial port-wine stain, blanchable, red or pink patches in 0.1% to leptomeningeal capillary malformations, and 4 2% of newborns. Nevus simplex, also known central nervous system (CNS) abnormalities as “salmon patch” or “stork bite,” is evident including seizures, mental retardation, in 80% of newborns and may be similar in glaucoma or neurologic deficits. Cutaneous 4 appearance to a port-wine stain. Unlike this manifestations are often progressive and Figure 2 Figure 3

Figure1

Page 52 PHACOMATOSIS CESIOFLAMMEA: A CASE REPORT OF A NEWBORN WITH AN UNUSUAL MONGOLIAN SPOT AND PORT WINE STAIN bilateral.8 After further evaluation, KTS and (pigmentation along the first or second warranted in patients with cutaneous findings SWS were placed low on the list of differential branches of the trigeminal nerve), café-au- only, but for cosmetic purposes a pulsed dye diagnoses given that the patient had no note lait macules, CNS involvement or ocular laser can be used for nevus flammeus and a of leg- or arm-size abnormalities and no symptoms. Prognosis of the disorder largely Q-switched laser for pigmented nevi.16 These facial rashes, and these diagnoses would not depends on the presence of systemic disease.8 procedures should be performed in childhood adequately explain the patient’s extensive before school age for the best results.18 Roughly 250 total cases of PPV have been Mongolian spot. reported worldwide, with phacomatosis Evidence of extracutaneous involvement may Mongolian spots are the most common type cesioflammea accounting for 77% of these require further evaluation with early referral 2 and prompt treatment to optimize patient of hyperpigmented lesions in a newborn, cases. Studies reveal a slight female 16 8 outcome. especially in Asian, African American, and predominance as well as an increased Hispanic populations.9 These lesions are incidence in Argentinian, Hispanic, and benign and present as blue-to-gray macules Japanese populations.13 Conclusion Limited literature Mongolian spots and port-wine stains can be due to delayed disappearance of dermal of twin studies in PPV strongly suggest twin common findings on initial newborn exams. deep in the . Pigment is discordance, in which monozygotic twins of Special attention should be paid when dealing usually located near the sacral and buttock 14 PPV patients are unaffected. with atypical presentations of these otherwise- area and fades within the first two years of The pathogenesis of PPV is largely unknown. benign pigmented and vascular birthmarks, life.10 Lesions located in extrasacral areas are The most promising hypothesis involves “twin or if the two present simultaneously such known as “aberrant” and may raise concern for spotting” or didymosis, a phenomenon well- as in phacomatosis cesioflammea. Upon underlying disorders. For example, perioral 15 studied in plants and animals. Didymosis diagnosis, a thorough physical exam should Mongolian spots have been reported in 20% to represents a specific form of somatic be performed, including a dilated eye exam by 50% of patients with cleft lip.11 There have also recombination whereby two neighboring an ophthalmologist and close monitoring for been cases of persistent ventrally and dorsally but genetically different mutant clonal cells signs of neurodevelopmental delay, to assess distributed Mongolian spots associated with 2 12 sporadically cross over to form distinctive for extracutaneous manifestations. In patients certain lysosomal-storage disorders. 1 homozygous cell lines. In the case of PPV, this with cutaneous findings alone, prognosis is The patient was eventually given a working process likely occurs in genes coding for vessel good, and treatments such as pulsed dye laser diagnosis of phacomatosis cesioflammea, and development, thus resulting or Q-switched laser are optional for cosmetic which was later confirmed by dermatology in the mosaic appearance of both vascular and purposes.16 Patients with extracutaneous consultation. This cutaneous disorder pigmented nevi.14 findings, which mainly involve the central adequately explained the patient’s unusual nervous system, may require referral to a Skin lesions alone are largely asymptomatic presentation of Mongolian spot and port-wine 16 specialist for further management as indicated. and may lighten over time. However, stain. The overall anticipated prognosis for While phacomatosis cesioflammea is a rarely approximately 50% of PPV cases have this particular patient is good. The absence of reported disorder, physicians should keep it systemic involvement, usually appearing systemic involvement is especially encouraging. 1 in mind when evaluating any newborn with within the first months of life. Research Close contact has been maintained with the prominent and unusual birthmarks. suggests a correlation between the amount of patient’s mother and pediatrician, who report cutaneous involvement and an increased risk he is happy and developing appropriately. He 8 Acknowledgments for multi-systemic complications. The central had a dilated ocular exam per ophthalmology, Special thanks the patient’s mother for her close nervous system is most commonly affected, which was normal, and is to follow up annually communication and cooperation throughout presenting with seizures, cerebral atrophy, with dermatology to monitor cutaneous lesions. the writing of this article. Thanks as well to neurodevelopmental delay, psychomotor AnMed Health Women’s and Children’s retardation, external hydrocephalus, stroke, Hospital, Dr. Lorraine Bruce, Dr. Matthew Discussion and intracerebral hemorrhage.8,13,16 Phacomatosis pigmentovascularis, or PPV, Common Cline, Greenwood Genetics, Melanie LaVoie, is a group of rare congenital cutaneous ocular findings include glaucoma, episcleral Dr. Theresa Knoepp, Dr. David Malpass, and abnormalities diagnosed clinically by the vascular malformations, conjunctival Dr. Mary K. Spraker for their contributions in coexistence of pigmented nevi and vascular melanocytosis, primary acquired melanosis, providing medical care for this patient. 2 epiretinal membrane, vitreous hemorrhage, malformations. The first case of PPV pigmented cataracts, amblyopia, and related was described in 1947 by Ota et al., who References choroidal melanoma.1,2 categorized the disorder into types I through Other complications 1. Brittain P, Walsh E, Smidt A. Blotchy Baby: V, with subtype “a” for cutaneous involvement include atrial septal defect, renal agenesis, A case of Phakomatosis Pigmentovascularis. J only and “b” for presence of extracutaneous umbilical hernia, idiopathic facial paralysis, Pediatr. 2013;162:1293. 2 diabetes insipidus, vitiligo, hyper IgE, IgA findings. In 2005, a simpler classification 2. Shields CL, Kligman BE, Suriano M, deficiency, pyogenic granuloma, cavernous system was established by Happle involving et al. Phacomatosis Pigmentovascularis of hemangioma, scoliosis, premature tooth four main groups: phacomatosis cesioflammea, Cesioflammea Type in 7 Patients: combination eruption, macrocephaly, Arnold-Chiari type phacomatosis spilorosea, phacomatosis of ocular pigmentation (melanocytosis or 2 I, syndactyly, bilateral deafness, and eczema. cesiomarmorata, and unclassifiable PPV. melanosis) and nevus flammeus with risk Some reports note an association with KTS Phacomatosis cesioflammea, or PPV type for melanoma. Arch Ophthalmol. 2011 and SWS.17 II, is diagnosed by the presence of aberrant June;129(6):746-750. Mongolian spots and port-wine stain. Initial workup should include a complete 3. Jacobs AH, Walton RG. The incidence of Additional cutaneous findings may include physical exam, close neurodevelopmental birthmarks in the neonate. Pediatrics. 1976; nevus anemicus (hypopigmentation due to monitoring, and a thorough dilated ocular exam 58:218. permanent vasoconstriction), by an ophthalmologist.2 No treatment may be ZARANDY, CLARK, SHEW Page 53 4. Kanada KN, Merin MR, Munden A, J Am Acad Dermatol. 2008;58(1):88-93. Friedlander SF. A prospective study of cutaneous findings in newborns in the United 18. Segatto MM, Scmitt EU, Hagemann LN, States: correlation with race, ethnicity, and da Silva RC, Cattani CAS. Phacomatosis gestational status using updated classification Pigmentovascularis Type IIa - Case Report. and nomenclature. J Pediatr. 2012;161:240. 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