A Novel Presentation of Finlay-Marks Syndrome: A Case Study of a Complex Multidisciplinary Approach in a Newborn

Rajendra Sawh-Martinez, MD, MHS, FACS

Chief of Pediatric Plastic Surgery

Medical Director of Craniomaxillofacial Surgery

AdventHealth Orlando

Katelyn Lewis, BS

Med Student

University of Central Florida College of Medicine

The Challenge:

We met the male patient on DOL 0, shortly after birth, after his transfer to AdventHealth Orlando with a large, critical skull defect with exposed dura and sagittal sinus. The patient was in critical condition, intubated with bilateral chest tubes placed for bilateral pneumothorax.

The cranial defect was immediately addressed given the life-threatening nature of the defect and was noted clinically to be a full thickness Aplasia Cutis Congenita defect. Critical care was administered by the NbICU team and included multimodal cardiopulmonary resuscitation and thorough evaluation by multiple different medical specialties. The patient would go on to have multidisciplinary team evaluation, including genetic testing which would reveal a diagnosis of Finlay-Marks Syndrome, a rare congenital defect with only 36 previously known cases in the world literature.

Given the situation and the critical size, traditional treatments for the calvarial defect were not deemed adequate. Large scalp flaps or skin grafting would be options but would potentially compromise bony ingrowth. Our team sought new approaches.

The Solution:

We ensured that the scalp was kept in a moist and covered environment. Placentally-derived and layered wound care coverage approaches were undertaken. Both beside procedures and operative intervention were carried out to ensure both early intervention and thorough, sterile debridement and defect management with layered wound coverage.

The patient continued to have multiple reconstructive procedures to improve new epithelization of his scalp. At approximately four weeks after the primary operation, adequate wound healing was appreciated with coverage of critical structures including the dura and sagittal sinus.

The Results:

Now 26 months after treatment, coverage of the skull defect and invaginating bony ingrowth are occurring. The bony defect continues to improve and appears to be getting smaller by novel bony ingrowth which would have thought to be impossible.

The child remains in stable condition and has multiple planned interventions including scalp expansion and possible calvarial grafting if bony in growth is incomplete or inadequate.

Scalp-Ear-Nipple Syndrome, or Finlay-Marks Syndrome, is an extraordinarily rare syndrome characterized by abnormalities of the scalp, ears, and nipples. This syndrome was first reported by Finlay and Marks [1978] who described a family in Cardiff, United Kingdom with ten individuals across five different generations presenting with similar symptomatology of scalp nodules, ear anomalies, and rudimentary nipples (Marks, 1978). Two notable genetic associations with SEN Syndrome are a missense mutation in the KCTD1 gene and a homozygous deficiency of Lef-1 (lymphoid enhancer factor-1) (Morales-Peralts et al., 2014).

Our patient was found to have the KCTD1 mutation. An additional karyotype analysis demonstrated a genotype of 47 XXY, confirming diagnosis of Klinefelter Syndrome.

This patient has an impressive and rare clinical presentation in vastly unknown territory in terms of optimal approaches in a child whose life was compromised. The child’s progress and turnaround are a testament to the expertise, care and attention provided by AdventHealth’s Newborn Intensive Care Unit (NbICU) and pediatric specialists along with the patient’s incredibly dedicated, thoughtful, and loving family. The patient’s recovery and progress are a testament to modern medical treatment and discoveries.

If you have any questions or would like more information, please email Raj.Sawh-Martinez@AdventHealth.com