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Anais Brasileiros de Dermatologia

Print version ISSN 0365-0596On-line version ISSN 1806-4841

An. Bras. Dermatol. vol.94 no.2 Rio de Janeiro Mar./Apr. 2019  Epub May 09, 2019

http://dx.doi.org/10.1590/abd1806-4841.20197661 

Syndrome in question

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome*

Clarissa Patias Lena1 
http://orcid.org/0000-0002-9137-6585

Rogério Nabor Kondo2 
http://orcid.org/0000-0003-1848-3314

Théo Nicolacópulos3 
http://orcid.org/0000-0001-7672-4337

1Universidade Estadual de Londrina, Londrina (PR), Brazil

2Dermatology Service, Hospital Universitário Regional do Norte do Paraná, Universidade Estadual de Londrina, Londrina (PR), Brazil

3Dermatology Service, Hospital Universitário Regional do Norte do Paraná da Universidade Estadual de Londrina - Clinical Dermatologist, - Itajaí - Santa Catarina- Brazil


Abstract

Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Keywords: Case reports; Mosaicism; Nevus sebaceous of Jadassohn

CASE REPORT

An 8-year-old female patient presented since birth with a yellowish verrucous plaque on the left temporal area that extended to the ipsilateral cervical region, associated with cicatricial alopecia, dolichocephaly, left periocular nodule, and epibulbar tumors (Figure 1). The patient was born to a twin pregnancy, and no complications were recorded during prenatal care. Delivery was by uncomplicated cesarean section, and both twins were in good physical condition at birth (Figure 2).

Figure 1 Patient presents with verrucous plaques on the left temporal region of the scalp extending to the ipsilateral cervical area. Detail of epibulbar tumors 

Figure 2 The twin sisters 

At three months of age, after an epileptic seizure, a 6 by 5 cm arachnoid cyst was discovered in the patient's left middle cranial fossa (Figure 3). A cyst-peritoneal shunt was performed, and treatment was initiated with carbamazepine. Histopathology of the facial lesion confirmed Jadassohn's sebaceous nevus (Figure 4). The patient currently presents a mild cognitive deficit and loss of visual acuity on the left. His twin sister is healthy.

Figure 3 Tomographic image of arachnoid cyst in the left middle cranial fossa 

Figure 4 Sebaceous nevus. Hyperkeratosis, acanthosis with papillomatosis, reduction of hair follicles, and presence of apocrine glands. (Hematoxylin & eosin, x4) 

DISCUSSION

Nevus sebaceous (NS) is the most common type of organoid epidermal nevus.1,2 Epidermal nevus syndromes (ENS) are a group of distinct disorders that can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by NS associated with extracutaneous anomalies.2-4

In 1957, Gustav Schimmelpenning first detailed epidermal nevus with neurological anomalies. Thereafter, Feuerstein and Mims reported a case of linear nevus, epilepsy, and mental retardation in 1962. Since then, the classic triad of linear nevus sebaceous syndrome (NS, seizures, and mental retardation) has been applied widely.3 However, a number of studies have shown that the association of the syndromes extends well beyond the initially proposed triad.2-6 Genitourinary (horseshoe kidney and duplicated urinary collecting system), cardiovascular (ventricular septal defect, coarctation of the aorta, aortic hypoplasia), endocrine (hypophosphatemic rickets), and dental alterations (hemi-hyperplasia of the tongue, bone cysts, aplasia of the teeth, hypoplastic enamel), and neoplasms (basal cell carcinoma) may be present.2 Thus, the use of the triad as the sole diagnostic criterion has been abandoned.2,3

Our patient presents NS, seizures, and cognitive deficit (classic triad), but also has a craniofacial defect (dolicocephaly), arachnoid cyst, and ocular abnormalities (epibulbar tumors).

The etiology of SSFM is still unknown, but genomic mosaicism has been proposed. According to this theory, genetic alterations are present in only some of the body's cells, most likely due to the mutation of a gene that occurs after fertilization (postzygotic mutation).7,8 The involvement of only one of the twin sisters in the present case supports this hypothesis. Postzygotic mutations have been described in the HRAS gene (chromosome 11p15), NRAS (chromosome 1p13), and KRAS (chromosome 12p12).7,8

The differential diagnoses are phacomatosis pigmentokeratotica, nevus comedonicus syndrome, and Proteus syndrome.3,9,10

NS is the main characteristic and diagnostic criterion for SSFM. The lesion presents as a hamartoma with epidermal, follicular, sebaceous, and apocrine elements and occurs in approximately 0.3% of newborns. Based on the evidence accumulated to date, there is no need to remove NS as a prophylactic measure, since the risk of developing malignant neoplasia is lower than previously estimated. We thus adopted an expectant approach in the current case.2,3,9

*Work conducted at the Universidade Estadual de Londrina, Londrina (PR), Brazil.

Financial support: None.

ACKNOWLEDGMENTS

The authors wish to thank the faculty of Universidade Estadual de Londrina.

REFERENCES

1 Enei ML, Paschoal FM, Valdés G, Valdés R. Basal cell carcinoma appearing in a facial nevus sebaceous of Jadasshon: dermoscopic features. An Bras Dermatol. 2012;87:640-2. [ Links ]

2 Wang SM, Hsieh YJ, Chang KM, Tsai HL, Chen CP. Schimmelpenning syndrome: a case report and literature review. Pediatr Neonatol. 2014;55:487-90. [ Links ]

3 Happle, R. The Group of Epidermal Nevus Syndromes: Part I. well-defined Phenotypes. J Am Acad Dermatol. 2010;63:1-22. [ Links ]

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5 Amato C, Elia M, Schepis C. Schimmelpenning Syndrome: A Kind of Craniofacial Epidermal Nevus Associated with Cerebral and Ocular MR Imaging Abnormalities. AJNR Am J Neuroradiol. 2010;31:E47-8. [ Links ]

6 Jonas JB, Budde WM, Bergua A, Mayer U, Bartz-Schmidt KU.. Linear naevus sebaceous syndrome, optic disc staphyloma, and non-rhegmatogenous retinal detachment. Br J Ophthalmol. 2000;84:119-20. [ Links ]

7 Groesser L, Herschberger E, Ruetten A, Ruivenkamp C, Lopriore E, Zutt M, et al. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet. 2012;44:783-7. [ Links ]

8 Rijntjes-Jacobs EG, Lopriore E, Steggerda SJ, Kant SG, Walther FJ. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionc twins supports the concept of a postzygotic mutation. Am J Med Genet A. 2010;152A:2816-9. [ Links ]

9 Cunha Filho RR, Fezer AP, Lorencette NA. Cerebriform sebaceous nevus: a rare presentation. An Bras Dermatol. 2015;90(Suppl 1):S160-1 [ Links ]

10 Gamayunov BN, Korotkiy NG, Baranova EE. Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? Clin Case Rep. 2016;4 564-67. [ Links ]

Received: September 18, 2018; Accepted: October 09, 2018

Mailing Address: Clarissa Patias Lena. E-mail: cissalena@hotmail.com

Conflict of interest: None.

AUTHORS'CONTRIBUTIONS

Clarissa Patias Lena

0000-0002-9137-6585

Approval of the final version of the manuscript; Elaboration and writing of the manuscript; Critical review of the literature; Critical review of the manuscript

Rogério Nabor Kondo

0000-0003-1848-3314

Approval of the final version of the manuscript; Intellectual participation in propaedeutic and/or therapeutic conduct of the cases studied; Critical review of the literature; Critical review of the manuscript

Théo Nicolacópulos

0000-0001-7672-4337

Approval of the final version of the manuscript; Intellectual participation in propaedeutic and/or therapeutic conduct of the cases studied; Critical review of the literature; Critical review of the manuscript

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