Encephalocraniocutaneous Lipomatosis: Haberland Syndrome

Patient: Male, 11 Final Diagnosis: Haberland syndrome Symptoms: Seizure Medication: - Clinical Procedure: Medical treatment Specialty: Neurosurgery Objective: Rare disease Background: Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. The dermatological hallmark is a hairless fatty tissue nevus of the scalp called nevus psiloliparus. Case Report: An 11-year-old right-handed boy, born at full term, was referred to our clinic. His family had no consanguinity or history of neurocutaneous disease. The patient's physical examination revealed a large hairless lesion on the right frontoparietal scalp called nevus psiloliparus. Beginning from the birth, a dermolipoma (an uncommon benign tumor) was reported to have occurred on the conjunctiva, mostly ipsilateral in his right eye and present on the ipsilateral side of the neurological abnormalities shown on magnetic resonance imaging and computed tomography. The patient had muscle weakness in left upper and lower extremities. He had a mild form of mental retardation. Conclusions: There is no specific treatment for ECCL. Management of ECCL is usually symptomatic. Surgical correction of a cutaneous lesion can be performed for cosmetic improvement. An early diagnosis of ECCL allows for early symptom treatment and improved patient quality of life.

Yazar Ozdogan, Selcuk
Sayman, Ceyhun
Yaltirik, Cumhur Kaan
Duzkalir, Hanife Gulden
Kaya, Mustafa
Demirel, Nail
Duzkalir, Ali Haluk
Yayın Türü Article
Tek Biçim Adres https://hdl.handle.net/20.500.12628/2539
Tek Biçim Adres 10.12659/AJCR.907685
Konu Başlıkları Epilepsy, Absence
Lipoma
Neurocutaneous Syndromes
Koleksiyonlar Araştırma Çıktıları | WoS | Scopus | TR-Dizin | PubMed | SOBİAD
PubMed İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu
Dergi Adı AMERICAN JOURNAL OF CASE REPORTS
Dergi Cilt Bilgisi 18
Sayfalar 1271 - 1275
Yayın Yılı 2017
Eser Adı
[dc.title]
Encephalocraniocutaneous Lipomatosis: Haberland Syndrome
Yazar
[dc.contributor.author]
Ozdogan, Selcuk
Yazar
[dc.contributor.author]
Sayman, Ceyhun
Yazar
[dc.contributor.author]
Yaltirik, Cumhur Kaan
Yazar
[dc.contributor.author]
Duzkalir, Hanife Gulden
Yazar
[dc.contributor.author]
Kaya, Mustafa
Yazar
[dc.contributor.author]
Demirel, Nail
Yazar
[dc.contributor.author]
Duzkalir, Ali Haluk
Yayın Yılı
[dc.date.issued]
2017
Yayıncı
[dc.publisher]
INT SCIENTIFIC LITERATURE, INC
Yayın Türü
[dc.type]
article
Özet
[dc.description.abstract]
Patient: Male, 11 Final Diagnosis: Haberland syndrome Symptoms: Seizure Medication: - Clinical Procedure: Medical treatment Specialty: Neurosurgery Objective: Rare disease Background: Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. The dermatological hallmark is a hairless fatty tissue nevus of the scalp called nevus psiloliparus. Case Report: An 11-year-old right-handed boy, born at full term, was referred to our clinic. His family had no consanguinity or history of neurocutaneous disease. The patient's physical examination revealed a large hairless lesion on the right frontoparietal scalp called nevus psiloliparus. Beginning from the birth, a dermolipoma (an uncommon benign tumor) was reported to have occurred on the conjunctiva, mostly ipsilateral in his right eye and present on the ipsilateral side of the neurological abnormalities shown on magnetic resonance imaging and computed tomography. The patient had muscle weakness in left upper and lower extremities. He had a mild form of mental retardation. Conclusions: There is no specific treatment for ECCL. Management of ECCL is usually symptomatic. Surgical correction of a cutaneous lesion can be performed for cosmetic improvement. An early diagnosis of ECCL allows for early symptom treatment and improved patient quality of life.
Açıklama
[dc.description]
WOS: 000417191500001
Açıklama
[dc.description]
PubMed: 29192135
Kayıt Giriş Tarihi
[dc.date.accessioned]
2019-12-23
Açık Erişim Tarihi
[dc.date.available]
2019-12-23
Yayın Dili
[dc.language.iso]
eng
Konu Başlıkları
[dc.subject]
Epilepsy, Absence
Konu Başlıkları
[dc.subject]
Lipoma
Konu Başlıkları
[dc.subject]
Neurocutaneous Syndromes
Haklar
[dc.rights]
info:eu-repo/semantics/openAccess
ISSN
[dc.identifier.issn]
1941-5923
İlk Sayfa Sayısı
[dc.identifier.startpage]
1271
Son Sayfa Sayısı
[dc.identifier.endpage]
1275
Dergi Adı
[dc.relation.journal]
AMERICAN JOURNAL OF CASE REPORTS
Dergi Cilt Bilgisi
[dc.identifier.volume]
18
Tek Biçim Adres
[dc.identifier.uri]
https://dx.doi.org/10.12659/AJCR.907685
Tek Biçim Adres
[dc.identifier.uri]
https://hdl.handle.net/20.500.12628/2539
Görüntülenme Sayısı ( Şehir )
Görüntülenme Sayısı ( Ülke )
Görüntülenme Sayısı ( Zaman Dağılımı )
Görüntülenme
12
09.12.2022 tarihinden bu yana
İndirme
1
09.12.2022 tarihinden bu yana
Son Erişim Tarihi
09 Şubat 2024 06:00
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Tıklayınız
ipsilateral treatment patient called psiloliparus mental lesion hairless retardation reported Haberland disease frontoparietal correction Beginning cutaneous neurocutaneous revealed performed examination physical cosmetic improvement Surgical history diagnosis allows symptom consanguinity improved quality family clinic dermolipoma imaging
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