[Eye symptoms in Schimmelpenning-Feuerstein-Mims syndrome, a rare phacomatosis]

Klin Monbl Augenheilkd. 1997 Jun;210(6):370-5. doi: 10.1055/s-2008-1035077.
[Article in German]


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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Cataract / diagnosis
  • Cataract / genetics*
  • Cataract / pathology
  • Child, Preschool
  • Choristoma / diagnosis
  • Choristoma / genetics
  • Choristoma / pathology
  • Conjunctival Diseases / diagnosis
  • Conjunctival Diseases / genetics
  • Conjunctival Diseases / pathology
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Eyelid Diseases / diagnosis
  • Eyelid Diseases / genetics*
  • Eyelid Diseases / pathology
  • Eyelids / pathology
  • Eyelids / surgery
  • Female
  • Follow-Up Studies
  • Hamartoma / diagnosis
  • Hamartoma / genetics*
  • Hamartoma / pathology
  • Humans
  • Infant
  • Infant, Newborn