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Year : 2021  |  Volume : 25  |  Issue : 1  |  Page : 39-41

Case Report of Oculocerebrocutaneous (Delleman) syndrome and review of cutaneous features

1 College of Medicine, Princess Nourah University, Riyadh, Saudi Arabia
2 College of Medicine, Al Majmaah University, Riyadh, Saudi Arabia
3 Department of Dermatology, College of Medicine, King Khalid University Hospital, Riyadh, Saudi Arabia

Date of Submission07-Jul-2020
Date of Acceptance06-Oct-2020
Date of Web Publication04-May-2021

Correspondence Address:
Dr. Maha AlQusayer
11411 Airport Road, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdds.jdds_25_20

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Oculocerebrocutaneous syndrome (OCCS) is a rare disorder with specific clinical presentation. It can be diagnosed clinically upon specific dermatological, neurological, and ophthalmological criterion. We present the case of a 5-week-old baby boy with OCCS syndrome, highlighting its dermatological manifestations and a review of skin features as well. The patient presented with a unilateral microphthalmia with orbital cysts, postauricular crescent-shaped skin defect, and pedunculated skin appendages with multiple focal hypoplastic skin lesions. Early diagnoses and long-term follow-up may improve the prognosis of such a rare disease.

Keywords: Aplasia of skin, Delleman syndrome, hypoplasia, oculocerebrocutaneous syndrome, postauricular crescent-shaped skin defect

How to cite this article:
AlQusayer M, Alkheraiji A, AlQusayer M, Alakeel A. Case Report of Oculocerebrocutaneous (Delleman) syndrome and review of cutaneous features. J Dermatol Dermatol Surg 2021;25:39-41

How to cite this URL:
AlQusayer M, Alkheraiji A, AlQusayer M, Alakeel A. Case Report of Oculocerebrocutaneous (Delleman) syndrome and review of cutaneous features. J Dermatol Dermatol Surg [serial online] 2021 [cited 2022 Dec 8];25:39-41. Available from: https://www.jddsjournal.org/text.asp?2021/25/1/39/315326

  Introduction Top

Oculocerebrocutaneous syndrome (OCCS) is a rare neuroectodermal disorder characterized by congenital anomalies affecting the skin, eye, and central nervous system. The disorder is also known as “Delleman syndrome” after its first description by Delleman and Oorthuys in 1981.[1] Currently, at least 45 cases have been described in the literature: forty cases in a valuable review by Moog and Dobyns[2] and another five recent individual case reports.[3],[4],[5],[6],[7] While the exact genetic mutation is not clear, there is increasing evidence of the role of postzygotic mosaic mutations in one or more genes, with the syndrome possibly being inherited in an X-linked recessive fashion.[2] This hypothesis is supported by the increased number of males with OCCS without a positive family history.[2] However, one case demonstrated a lack of abnormal genetic findings.[8] In 2006, detailed diagnostic criteria for OCCS were described by Hunter,[9] and slightly modified by Moog and Dobyns in 2018.[2] The diagnosis can be definite or probable based on how many major and minor criteria are met.[2] Here, we present a new confirmed case of OCCS showing the unique postauricular crescent-shaped skin defect of OCCS.

  Case Report Top

A 5-week-old Syrian male patient was referred to our dermatology clinic for assessment of multiple skin lesions that were present since birth. The boy was born full term, without any delivery or postpartum complications. The mother denied any relevant exposure and any prenatal or postnatal complications. The parents were not consanguineous, and no similar cases have been seen in the family.

Dermatological examination showed two circumscribed aplastic skin defects (aplasia cutis congenita): one large (2 cm) oval skin defect above the left ear and the other small (6 mm) crescent-shaped skin defect above the right ear [Figure 1]a. In addition, there were three hypoplastic skin defects: two on the upper back and one on the right flank [Figure 1]b. There were pedunculated, finger-like skin appendages over the right upper eyelid and nostrils. Ophthalmologic examination showed microphthalmia on the right side and buphthalmia and protrusion on the left side [Figure 2]. In addition, there were small, multiple, nodular skin tags on the right eyelids (eyelid coloboma). Further radiologic and ophthalmologic examination showed a cyst on the right orbit and congenital glaucoma, megalocornea, and corneal haze in the left orbit in addition to a unilateral choanal atresia on the right side and bifid uvula. TORCH screening showed negative blood results. The patient was not subjected to any surgical interventions and glaucoma was treated medically using Cosopt (dorzolamide hydrochloride-timolol maleate) eye drops.
Figure 1: (a) Crescent-shaped defect above the right ear (b) Three hypoplastic skin defects

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Figure 2: Pedunculated, finger-like skin appendages over the right upper eyelid and nostrils. Right eyelid coloboma, microphthalmia, and left buphthalmia

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  Discussion Top

To the best of our knowledge, this is the first case reported in the region of the Middle East. The diagnosis is made by the involvement of three systems (skin, eye, and brain) with major features in at least two.[2] The major features detected in this patient were postauricular crescent-shaped skin defect, pedunculated skin appendage with multiple focal hypoplastic skin lesions, and microphthalmia with orbital cyst. A postauricular crescent-shaped skin defect is pathognomonic and is seen in approximately 30% of OCCS patients. [Table 1] compares the current patient's skin features with previously published OCCS cases.
Table 1: Comparison of skin features with previously published oculocerebrocutaneous syndrome cases

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OCCS is often diagnosed in the first 2 months of life, but our patient was diagnosed at a younger age (5 weeks). Whereas, some cases were diagnosed later in childhood where serious complications have developed.[3] This probably highlights the possibility of missed OCCS diagnosis, especially in nonsevere cases. In addition, close to 20% of severe OCCS patients may die early after birth due to causes related to the syndrome.[10] This may underscore the importance of awareness of the clinical features of this congenital disease among dermatology and ophthalmology physicians. The current patient did not show any neurological abnormalities on examination. However, long-term follow-up evaluating for developmental delay and intellectual disability is needed given the young age at the time of diagnosis (5 weeks).

OCCS is a rare disease that represents some unique and typical dermatological manifestations that can be clinically recognizable by dermatologists and physicians for suspecting and diagnosing such a rare disease.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, parents/guardians of the patient(s) have given their consent to reproduce images and other clinical information to be reported in scientific journal. The parents/guardians understand that the names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Delleman JW, Oorthuys JW. Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity? Clin Genet 1981;19:191-8.  Back to cited text no. 1
Moog U, Dobyns WB. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. Am J Med Genet C Semin Med Genet 2018;178:414-22.  Back to cited text no. 2
Mahomed F, Rikhotso E. Ossifying fibroma in a patient with oculocerebrocutaneous (Delleman) syndrome. J Oral Maxillofac Surg 2015;73:1314-9.  Back to cited text no. 3
Saldir M, Polat A, Tunc T, Ozge G, Tehli O, Kacar Y, et al. A newborn with oculocerebrocutaneous syndrome (Delleman–Oorthuys syndrome). Genet Couns 2015;26:457-61.  Back to cited text no. 4
Annelien M, Lieve V. A rare syndrome with eye, skin, and brain abnormalities. Pediatr Neurol 2018;83:58-9.  Back to cited text no. 5
Badejo OA, Fasina O, Balogun JA, Ogunbiyi JO, Shokunbi MT. Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: A case report. Ther Adv Ophthalmol 2018;10:2515841418817486.  Back to cited text no. 6
Ugalahi M, Olusanya B, Fasina O, Seidu M, Adekanmi A. Delleman syndrome: A case report from West Africa-features and the challenges of management. Niger Postgrad Med J 2018;25:191-4.  Back to cited text no. 7
[PUBMED]  [Full text]  
Bokman CL, Lo CC, Eichhorn K, Goldberg RA. Congenital accessory palpebral fissure and eyelid in a newborn: A case report. Ophthalmic Plast Reconstr Surg 2018;34:e119-21.  Back to cited text no. 8
Hunter AG. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes? Am J Med Genet A 2006;140:709-26.  Back to cited text no. 9
Pasquale LR, Romayananda N, Kubacki J, Johnson MH, Chan GH. Congenital cystic eye with multiple ocular and intracranial anomalies. Arch Ophthalmol 1991;109:985-7.  Back to cited text no. 10


  [Figure 1], [Figure 2]

  [Table 1]


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