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[Eye symptoms in Schimmelpenning-Feuerstein-Mims syndrome, a rare phacomatosis]
U M Mayer1, F H Meythaler, G O Naumann
1Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg.
Insights
Early diagnosis of congenital facial and eye malformations in infants can shorten diagnostic and therapeutic pathways. This study highlights key findings in three cases, emphasizing the importance of timely intervention for better outcomes.
Area of Science:
- Ophthalmology
- Dermatology
- Pediatric Surgery
Background:
- Congenital facial and eye malformations present diagnostic and therapeutic challenges in children.
- Early diagnosis is crucial for simplifying and shortening the patient's medical journey.
- This study examines three pediatric cases with complex craniofacial and ocular anomalies.
Observation:
- Two infants presented with nevus sebaceus Jadassohn, eyelid colobomas, epibulbar tumors, microphthalmia, and corneal opacifications.
- Histopathological examination and clinical documentation were performed under anesthesia.
- Symptoms and their localization varied significantly between patients.
Findings:
- Patient 2 exhibited a lid hamartoma containing lacrimal gland, cartilage, and bone.
- Reconstructive eyelid surgery improved both function and aesthetics in Patient 2.
- A unique scalp defect was observed in Patient 2, not previously reported in literature.
Implications:
- Timely diagnosis and intervention are vital for managing congenital craniofacial and ocular malformations.
- Nevus sebaceus Jadassohn requires ongoing dermatological surveillance due to potential malignant transformation.
- Further research into rare presentations and effective surgical reconstructions is warranted.
Background:
Children with connatal malformations of the face and of the eyes may run a long diagnostic and narrow therapeutic way. By an early diagnosis, this procedure could become significantly shorter und much easier. PATIENTS HISTOPATHOLOGY: Three clinical observations give typical examples: In correlation to the history of a patient described in 1975 by Meythaler (18) we examined two babies with naevus sebaceus Jadassohn, colobomas of the lids, epibulbar tumors, microphthalmus, and white, vascularized corneal opacifications. Already at the age of four weeks we were able to confirm the diagnosis and documented our findings in anesthesia by tables, photographs, and histopathologic observations.
Findings:
Localisations and expression of the symptoms are very different in patient 2 and 3. In patient 2 the lid hamartoma contained lacrimal gland, cartilage and bone structures. Reconstructive lid operations corrected the lid function and resulted in esthetic amelioration.
Conclusions:
The important points in our casuistics were: 1. After comparison of our findings with those in literature, there was not found any other patient with scalp defect as shown in patient 2. A cataract as described by Piper (21) was not seen in any of our patients; as supposed by the author, it should be due to cortisone application. 3. As Jadassohnnaevus may develop basalioma or adenocarcinoma, further dermatologic survey is indicated. 4. So long, no neurologic symptoms have occurred.