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NS must be considered in the differential diagnosis of childhood erythroderma. Its clinical course is characterized by ‘‘bamboo hair,’’ atopic manifestations, and ichthyosis linearis circumflexa. The implicated gene SPINK5 encodes the serine protease inhibitor LEKTI, which is highly expressed in thymus and mucous epithelia. LEKTI was found to be the precursor of at least two proteolytic fragments, D1 and D6, the latter of which was shown to exert an inhibitory effect on trypsin in vitro. LEKTI could play a protective role in the antiinflammatory and antimicrobial response of mucous. This protein is highly expressed in cultured epidermal keratinocytes and could have a similar function in the epidermis. Our patient had a partial biotinidase deficiency. The biotinidase locus (BTD) has been mapped to 3p25 by in situ hybridization (3). SPINK5 and BTD genes are mapped to different chromosomes, but this association could be accidental. The allergic reaction seen in our patient is consistent with the previous reports of food allergies in NS (4). Approximately 60 SPINK5 mutations have been described in the literature, but no clear correlation between genotype and phenotype has been drawn (5). Here, we identified one recurrent (p.R217X) and one novel (c.957_960dupTGGT) mutation, which contribute to delineating a mutational spectrum present in the Italian population and to increasing the global SPINK5 mutation database.
Claudia Covaciu, M.D.à Renata Lorini* *Department of Pediatrics, Institute Giannina Gaslini IRCCS, Genoa, Italy, Department of Dermatology, Institute Giannina Gaslini IRCCS, Genoa, Italy, àIstituto Dermopatico dell’Immacolata IRCCS, Rome, Italy Address correspondence to Maria G. Alpigiani, M.D., Institute ‘‘Giannina Gaslini’’ IRCCS, Largo Gerolamo Gaslini 5, 16147 Genova, Italy, or e-mail:
[email protected].
Accessory Scrotum Attached to a Peduncular Perineal Lipoma Abstract: In this study, we report on the case of a newborn boy diagnosed after birth with an accessory scrotum attached to a peduncular type of perineal lipoma without any other associated congenital anomalies. The neonate underwent a simple surgical excision of the lipoma and accessory scrotum in the first month of life, and his postoperative course was uneventful. Histologic examination revealed normal scrotal skin and adipose tissue. Accessory scrotum has a high incidence of association with perineal lipoma (83% of reported cases) and other urogenital and anorectal anomalies, but urogenital or anorectal anomalies were not seen in our patient.
ACKNOWLEDGMENT Thanks to Wiley Thomas John for translation. CASE REPORT REFERENCES 1. Cowan TM, Blitzer MG, Wolf B et al. Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med 2010;12:464–470. 2. Bitoun E, Chavanas S, Irvine AD et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002;118:352–361. 3. Pindolia K, Jordan M, Wolf B. Analysis of mutations causing biotinidase deficiency. Hum Mutat 2010;31:983– 991. 4. Kilic G, Guler N, Ones U et al. Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. Eur J Pediatr 2006;165:594–597. 5. Tu¨ysu¨z B et al. A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. Acta Derm Venereol 2010;90:95–96. Maria G. Alpigiani, M.D.* Pietro Salvati, M.D.* Maria Cristina Schiaffino, M.D.* Corrado Occella, M.D. Daniela Castiglia, Ph.D.à
A newborn boy was referred to the Department of Medical Genetics at the University of Novi Sad Hospital for the evaluation of his perineal anomalies. His general condition was good, and he had a perineal lipoma that measured approximately 3 cm in diameter, with an accessory scrotum (Fig. 1). The lipoma was attached to a midperineal skin tag, which was situated between the normally developed scrotum and the anus (Fig. 2). The penis was normally developed, and the urethral meatus was present at the tip of the normally developed glans penis. The testes were both normally descended and palpable on each side. There were no additional abnormalities of the external genitalia or further anorectal malformations. Ultrasound of the abdomen and urinary tract did not reveal any associated anomaly, and the micturating cystourethrogram was normal. Prenatal and family history were unremarkable. His karyotype was
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scrotal skin and adipose tissue, and the final diagnosis was perineal lipoma with an accessory scrotum. DISCUSSION
Figure 1. Perineal lipoma (black arrow) with an accessory scrotum (arrowhead) located inferior to the normally developed male genitalia.
Accessory scrotum with or without a lipoma is rare. The accessory perineal scrotum could present as midline or lateral perineal type in addition to the presence of a normally located scrotum, testes, and penis. Accessory scrotum is often associated with perineal lipoma and other urogenital and anorectal anomalies. An appropriate clinical and histologic evaluation is necessary to differentiate this anomaly from others and assess further anogenital developmental anomalies. It is usually a benign condition, and surgical excision is the definitive therapy. In this report, we present a case of accessory scrotum attached to a perineal lipoma. Accessory scrotum is the least frequent of all rare congenital scrotal anomalies, with only 40 reported cases. It includes scrotal tissue in addition to a normally developed scrotum situated in an aberrant location without the presence of testicular tissue (1,2). The etiology of accessory scrotum remains uncertain; it has been suggested that it results from the early division of a labioscrotal swelling with subsequent abnormal migration in the period of organogenesis (3). Park and Hong (2) classified the perineal lipomas associated with an accessory scrotum into two types. The peduncular type, an outpouching single mass, such as was found in our case, which originates by early division of pluripotential labioscrotal tissue elements, and the protruding type, which has a disruptive effect on the continuity of the developing caudal labioscrotal swelling (4). Accessory scrotum has a high incidence of association with perineal lipoma (83% of reported cases) and other urogenital and anorectal anomalies, but no urogenital or anorectal anomalies were seen in our patient (5). REFERENCES
Figure 2. The same patient showing the position of the perineal lipoma (black arrow), which was attached at the midperineum with a skin tag (arrowhead) and associated with an accessory scrotum (white arrow) between the normally developed scrotum and anus.
46,XY. The neonate underwent a simple surgical excision of the lipoma and accessory scrotum in the first month of life, and his postoperative course was uneventful. Histologic examination revealed normal
1. Hoar RM, Calvano CJ, Reddy PP et al. Unilateral suprainguinal ectopic scrotum: the role of the gubernaculum in the formation of an ectopic scrotum. Teratology 1998;57:64–69. 2. Park KH, Hong JH. Perineal lipoma in association with scrotal anomalies in children. BJU Int 2006;98:409–412. 3. Ito M, Hashizume K, Kanamori Y. New phenotype of accessory scrotum with perineal lipoblastoma: coexistence of midperineal and lateral accessory scrotums. Int J Urol 2004;11:125–127. 4. Takayasu H, Ueno A, Tsukada O. Accessory scrotum: a case report. J Urol 1974;112:826–827. 5. Sule JD, Skoog SJ, Tank ES. Perineal lipoma and the accessory labioscrotal fold: an etiological relationship. J Urol 1994;151:475–477.
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Ivana I. Kavecan, M.D., M.Sc.* Jadranka D. Jovanovic-Privrodski, M.D., Ph.D. Dusˇ anka S. Dobanovacki, M.D., Ph.D.à Milan R. Obrenovic, M.D. *Genetic Counseling Department, Center for Medical Genetics, àMedical Faculty, Urology Department, Pediatric Surgery Clinic, Institute for Children and Youth Health Care Vojvodina, Novi Sad, Serbia Address correspondence to Milan R. Obrenovic, M.D. Stevana Musica 5, 21000 Novi Sad, Serbia, or e-mail:
[email protected].
A Case of Blue Rubber Bleb Nevus Syndrome with Gastrointestinal and Central Nervous System Involvement Abstract: Blue rubber bleb nevus syndrome, or Bean syndrome, is a rare sporadic disorder of venous malformationsoftheskinandinternalviscera.Wereporta rare case of blue rubber bleb nevus syndrome with gastrointestinal and central nervous system involvement.
A 15-year-old Hispanic girl presented to the dermatology outpatient clinic for evaluation of a lesion on her left third toe. Past medical history was significant for a mild anemia for which the patient was on iron supplementation. Further interviewing revealed a history of multiple ‘‘hemangiomas’’ of her gastrointestinal (GI) tract
Figure 1. Skin lesions.
and skin first noted at age 4 years. A few of the patient’s skin lesions were noted to be painful. On physical examination, the patient had multiple blue to blue-gray macules, papules, and nodules on her trunk and extremities (Fig. 1). A lesional skin biopsy specimen was obtained for routine histology and showed a group of proliferating enlarged vascular channels lined by thin endothelial cells (Fig. 2). A previous double-balloon enteroscopy with fluoroscopy showed multiple vascular lesions within the patient’s small intestine, and a report from a biopsy of the patient’s jejunum showed large ectatic vascular channels with areas of thickened vessel walls and phleboliths. The patient did admit to intermittent headaches and was referred to neurology by her pediatrician. Her complete blood count (CBC) and coagulation studies were within normal limits at the time of presentation. She underwent magnetic resonance imaging (MRI) of the brain, which showed a depression within the left frontal lobe with a soft tissue component, consistent with a vascular malformation. Prior MRI studies have shown deep vascular lesions within the patient’s shoulders, ankles, and lower extremities. Blue rubber bleb nevus syndrome, or Bean syndrome, is a rare sporadic disorder of venous malformations of the skin and internal viscera originally described by Gascoyen in 1860. Presenting at birth to early childhood, the disease is characterized by widely distributed cutaneous soft deep blue compressible masses that may or may not be associated with pain and sweating. Internal venous malformations may be present (1). These lesions number from a few to hundreds. Men and women are
