Focal Dermal Hypoplasia Research Articles

An Unusual Skin Finding in a Rare Case of Goltz Syndrome

Abstract Introduction/Objective Goltz Syndrome (Focal Dermal Hypoplasia) is a rare X linked dominant genetic disorder with various dermatologic, musculoskeletal and neurologic manifestations, secondary to a mutation in the PORCN gene. Skin findings include telangiectasias, raspberry-like papillomas (angiofibroma like lesions), nodular fat herniation, xerosis and photosensitivity. Lesions are bilateral, and asymmetrically distribututed along the lines of Blasco. The adipocytic lesions can be diagnosed via a skin biopsy showing adipose tissue in the superficial epidermis and dermis or via molecular techniques showing a mutation in the PORCN gene. Here we report a case of Goltz Syndrome with unique dermal findings. Methods/Case Report A male infant presented at birth with mild diffuse xerosis, large hypopigmented and depigmented atrophic patches and plaques and multiple pink yellow red exophyitic soft papules distributed asymetrically across the body along the lines of Blascho. Additionally the patient had clinodactly, widely spaced nipples, extra pads of fat in the toes and philtrum and fingernails with longitudal ridges and lateral nail plate deviation. A diagnosis of Goltz syndrome was made via molecular analysis that showed mosiacism at C.502G>A (p.Gly168Arg) in the PORCN gene. The patient had a very superficial 2-3 mm erosion at the intersection between the scrotum and perineum. At 18 months, this had grown to finger like projections and eventually grew into multiple tan red exophytic warty papillomatous telangactatic like lesions measuring 3.0 x 0.8 cm that were painful and bled easily. A biopsy of this lesion showed focal mild epidermal hyperplasia and elongation of the rete ridges with wide spread diffuse vascular proliferation with multiple ectactic vessels along with mild dermal and perivascular inflammatory infiltrates. Also noted was infiltration of mature adipose tissue in the superficial epidermis and dermis. We preformed elastin and trichrome stains to identify if this lesion was reactive in nature or de novo. Our results showed retained elastin staining with a negative trichrome eluding to a denovo process. Additionally GLUT1 was negative, ruling out an infantile hemangioma. The above findings in this lesion do not represent any previously described dermatologic entity. Results (if a Case Study enter NA) NA Conclusion This is a rare and unique dermatologic finding of a case of Goltz sydrome, which itself is a rare disorder. In our literature review, this is the only case of Goltz Syndrome thusfar to have presented with this unique skin lesion.

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X-linked dominant disorder, predominantly seen in females, caused by pathogenic variants in PORCN. We characterized a case series of four genetically confirmed FDH patients (three females, one male) at Aarhus University Hospital, Denmark. We estimated the FDH prevalence from our local cohort and nationwide registry data. Three patients had characteristic dermatological findings suspicious for FDH and confirmed by targeted PORCN analysis. One patient had an atypical presentation with several malformations but only subtle skin changes and was diagnosed following trio exome-sequencing analysis. Skin atrophy with fat herniations and telangiectasias were typical cutaneous findings. Limb malformations included oligodactyly (cleft foot), syndactyly, and polydactyly. Eye abnormalities included coloboma and microphthalmos. Facial dysmorphology was defined by asymmetry, thin upper lip, and malformed ears. One patient developed a giant cell bone tumor, which is a rare feature of FDH. Dental findings included enamel hypoplasia with vertical grooving and irregular crowns. Four PORCN variants were identified, including three not previously reported in the literature.We estimated a regional point prevalence in Western Denmark of 1.6 cases per million population (95% confidence intervals (CI): 0.7-3.7 per million) and a nationwide registry-based point prevalence of 1.2 cases per million population (95% CI: 0.6-2.4 per million). FDH is an extremely rare and complex multisystem disorder of variable presentation, which requires close multidisciplinary collaboration for diagnosis and patient care.

Prevalence rates for ectodermal dysplasia syndromes.

Ectodermal dysplasias (EDs) are a heterogeneous group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. There are currently 49 recognized EDs with molecularly confirmed etiology. The EDs are very rare disorders, individually and in aggregate. Very little is published regarding the prevalence of these rare disorders. As a result of the genomics revolution, rare diseases have emerged as a global health priority. The various disabilities arising from rare disorders, as well as diagnostic and treatment uncertainty, have been demonstrated to have detrimental effects on the health, psychosocial, and economic aspects of families affected by rare disorders. Contemporary research methodologies and databases can address what have been historic challenges encountered when conducting research on rare diseases. In this study, we aim to ascertain period prevalence rates for several of the more common ectodermal dysplasia syndromes, by querying a large multicenter database of electronic health records, Oracle Real-World Data. For each of the included ectodermal dysplasia syndromes a clinical definition was developed by a committee of international experts with interests in EDs. The clinical definitions were based upon a combination of clinical features and designated by ICD-9 and ICD-10 codes. The January 2023 version of the Oracle Real-World Data database was queried for medical records that coincided with the clinical definitions. For our study, there were 64,523,460 individual medical records queried. Period prevalence rates were calculated for the following ED disorders: hypohidrotic ectodermal dysplasia, found to be 2.99 per 100,000; ectodermal dysplasia and immunodeficiency 1, 0.23 per 100,000; Clouston syndrome, 0.15 per 100,000; ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome, 0.61 per 100,000; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, 0.36 per 100,000; focal dermal hypoplasia, 0.10 per 100,000; and incontinentia pigmenti, 0.88 per 100,000. This study established estimated period prevalence rates for several of the ectodermal dysplasia syndromes, and it demonstrated the feasibility of utilizing large multicenter databases of electronic health records, such as Oracle Real World Data.

Surgical Treatment of Multiple Bone Cysts Using a Platelet-Rich Fibrin and BoneAlbumin Composite Graft: A Case Report

Promising research results have been obtained on the tissue-regeneration properties of PRF (platelet-rich fibrin) in dentistry and maxillofacial surgery. PRF presumably promotes healing and accelerates ossification. In this case report, the patient had a history of Gorlin–Goltz syndrome, also called nevoid basal cell carcinoma syndrome, an autosomal dominant neurocutaneous disease that was known for many years. As a consequence, cysts were detected in both the mandible and maxilla. We performed decompression on this 37-year-old patient, followed by a cystectomy on an extensive lesion in the right angle of the mandible. One cyst from each side of the body mandible and one from the maxilla were completely enucleated, as determined using an intraoral exploration. The resulting bone defect was filled with a composite graft composed of a mixture of A-PRF and a serum albumin-coated bone allograft (BoneAlbumin). The wound was then covered with a PRF membrane. The surgical sites were closed per primam. The postoperative period was uneventful. Biopsies were performed after three and six months of healing for histological micromorphometry analyses. Dental implants were placed at the sampling site. Three months after the implantation, the ossified implants were fitted with superstructures. To date, no complications have appeared with the bone augmentation. The authors interpret from the findings that the combination of A-PRF and BoneAlbumin can be validated as a prosperous bone substitute. It can be safely implanted after a 3-month ossification period.

Odontogenıc Keratocyst: A Case Report

Odontogenic keratocyst was first mentioned in the literature by Mikulicz in 1876, and described by Philipsen in 1956. These cysts are developmental odontogenic cysts arising from dental laminate remnants. Generally, these cysts can be seen in the second or third decade of life, in both mandibular and maxillary jaws; but most often they are localized in the mandibular jaw. A 23-year-old male patient who came to our clinic complaining of swelling in the lower jaw and did not have a systemic disease had a radiolucent lesion measuring about 4 * 2 cm in the mandible and lateral tooth area in the maxilla. Enucleation of radiolucent lesions which are localized in maxillary and mandibular jaws was performed. Both lesions were sent to the pathology laboratory for detailed examination. Extraction of the impacted right mandibular canine was made. According to the pathology report, a diagnosis of odontogenic keratocyst was made to both lesions. In this case keratocysts were seen as multiocular, and it was suspected that there could be Gorlin Goltz syndrome. According to the medical genetic report of the patient, who does not have any systemic diseases, Multilocular Odontogenic Keratocysts could not be associated with Gorlin Goltz syndrome.

Focal dermal hypoplasia (Goltz syndrome)

Focal dermal hypoplasia (Goltz syndrome)

Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.

The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Six girls (aged 6-month-8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients' microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly). All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11. In this study, we believe it's a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS.

Gorlin-goltz syndrome: A case report

Gorlin- Goltz syndrome is an inherited autosomal dominant disorder. This shows a high level of penetrance and variable expressiveness. Early diagnosis of this syndrome is important for counseling of patients to prevent harmful exposure to Ultra-Violet and ionizing radiations that increase the risk of developing Basal Cell Carcinoma.A 18 years old male patient came with chief complaint of swelling in lower front region of jaw. Clinical examination done. Orthopantomograph revealed multiple multi-locular, well-defined radiolucency with sclerotic border located in maxilla and mandible. Relevant investigations were done including chest X-ray, Computed Tomography scan and Histopathological examination revealed presence of Gorlin- goltz syndrome. The Gorlin-Goltz syndrome is manifested by multiple defects involving the skin, nervous system, eyes, endocrine system, and bones. The presence of two major and one minor or one major and three minor criteria are necessary to establish diagnosis. The present reported case of Gorlin-Goltz syndrome fulfilled 3 major and 1 minor criteria. In the treatment of recurrent Odontogenic Keratocyst, associated with Gorlin- goltz syndrome, the overlying surface epithelium should be excised along with the cystic lining to prevent recurrence. This paper focus on the importance of oral and maxillofacial health professionals in the early diagnosis of Gorlin-Goltz syndrome and in a multidisciplinary approach to provide a better prognosis to the patient.

Congenital skin aplasia associated with unilateral focal dermal hypoplasia

Congenital skin aplasia associated with unilateral focal dermal hypoplasia

H07 Papyri and sarcophagi: a tour of dermatology in Ancient Egypt

Abstract Long before medicine was demystified by the Renaissance, Enlightenment and modern thinkers with whom we are most familiar, the skin and its diseases were pondered on by the Ancient Egyptians. Through their writings and remains, modern scholars are able to assemble a picture of what dermatological conditions ailed the Egyptians and how they were contemporaneously perceived. The Ebers Papyrus (c. 1550 Bc), the largest record of Ancient Egyptian medicine, is noted for its vivid descriptions of lesions and grisly details of treatments. Some of the conditions mentioned therein are straightforwardly identified from their descriptions, whereas others are open to interpretation. Recent DNA evidence has also shed light on this topic, causing scholars to re-evaluate the presence of various conditions, such as leprosy and tuberculosis, in different parts of the ancient world. The Egyptians are perhaps most famed for the preservation of bodies through the process of mummification, which provides us with a unique glimpse into the nature of skin disease in the ancient world. Mummified skin tends to be shrunken, deeply pigmented and brittle. Even so, nails, hair and epidermal ridging are preserved. Prolonged rehydration and staining can reveal the stratum corneum, keratinocytes, melanin, collagen and elastic fibres, along with adnexal structures and subcutaneous tissue. Mummies with identifiable dermatological disease include Ramses V (d. 1145 Bc), whose face, neck, shoulders, lower abdomen and scrotum bear the marks of smallpox. The diagnosis was later confirmed by electron microscopy, which identified the variola viral corpuscle in his skin. Skin tumours have also been found in mummified remains, as have syndromic features of diseases, which predispose to multiple dermatological malignancies, such as Gorlin–Goltz syndrome, which is suspected in two fraternal mummies from around 3000 Bc. One specimen from c. 1300 Bc was identified as having a venous ulcer, which was subsequently confirmed when histology demonstrated perivascular haemosiderin deposition. Other tentative diagnoses have been made on appearance alone, including pustular dermatosis, impetigo and pemphigus foliaceus. Too often do we perceive medical history as starting in earnest during the last few centuries. The Ancient Egyptians have bequeathed to us a wealth of information, both historical and archaeological, which, combined with modern techniques, has allowed us to peer through the millennia into a dermatological world that can feel simultaneously alien and familiar. This presentation/poster will showcase what we understand of this world and what future research might hold in store.

Goltz syndrome in male

Goltz syndrome or focal dermal hypoplasia is a rare meso-ectodermal, X-linked dominant genetic disorder with female preponderance. Though the involvement of multiple systems is present, the hallmark of this syndrome is typical cutaneous features. Here, we report a unique case of Goltz syndrome in a 21-year-old male who presented to us with multiple growths on the palpebral conjunctiva of the right eye along with abnormal ice pick–type lesions on the skin. No significant family history was present. The affected eye also had iris and choroidal coloboma. Mild mental retardation and gingival hyperplasia were noted on systemic examination. Being a multisystem disorder, an ophthalmologist should be aware of its extraocular manifestations that can be fatal.

Urogenital presentation of a male patient with focal dermal hypoplasia.

Focal dermal hypoplasia (FDH) is a rare X-linked dominant syndrome characterized by streaky cutaneous atrophy in a blaschkoid distribution, skeletal dysplasias, and ocular abnormalities. Here, we report hypospadias and chordee identified in a male patient with molecularly confirmed FDH. This report highlights a new clinical manifestation of male patients with FDH.

Ophthalmological Features of Goltz Syndrome

Ophthalmological Features of Goltz Syndrome

The Gorlin Goltz Syndrome: A Case Report

A 72-year-old patient comes to our attention for multiple basal cell carcinomas on the face, trunk, upper and lower limbs. The patient had been subjected in the past to the removal of multiple lesions histologically found basal cell carcinomas. The patient's clinical phenotype corresponds to Gorlin Goltz syndrome. The patient is nominated for treatment with Sonidegib, a molecule that binds to a protein that controls the Hedgehog signaling pathway thus reducing the proliferation of cancer cells. The clinical effectiveness of the treatment was considerable.

Clinical and Radiogr Clinical and Radiographic F aphic Features of Ne es of Nevoid Basal Cell oid Basal Cell Carcinoma Syndrome: A Case Report

Nevoid Basal Cell Carcinoma Syndrome, also called as Gorlin Gotz syndrome is an autosomal dominant disorder characterized by the presence of multiple odontogenic keratocysts (OKCs) of the jaw, basal cell carcinomas and skeletal anomalies. Presence of multiple OKCs is the first clinical manifestation in majority of the cases. Early diagnosis and treatment are of utmost importance in reducing the severity of this syndrome. We hereby report a rare case of Gorlin Goltz syndrome in a 28 years old female patient who presented with multiple cystic lesions in the jaws. Present case also highlights the clinical, radiographic and histopathologic features of this uncommon syndrome.

REPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies.

To propose a working framework for patients with inherited eye diseases presenting to ophthalmologists who are interested in assisted reproductive technology and preimplantation genetic testing. Retrospective chart review and case series of three families with inherited eye diseases who successfully underwent preimplantation genetic testing, in vitro fertilization, and birth of unaffected children. Preimplantation genetic testing was performed for three families with different inherited eye diseases, which included autosomal dominant retinitis pigmentosa, autosomal recessive achromatopsia, and X-linked Goltz syndrome. Preimplantation genetic testing led to the identification of unaffected embryos, which were then selected for in vitro fertilization and resulted in the birth of unaffected children. A close collaboration between patients, families, ophthalmologists, reproductive genetic counselors, and reproductive endocrinology and infertility specialists is the ideal model for taking care of patients interested in preimplantation genetic testing for preventing the transmission of inherited eye diseases.

Porcn is essential for growth and invagination of the mammalian optic cup.

Microphthalmia, anophthalmia, and coloboma (MAC) are congenital ocular malformations causing 25% of childhood blindness. The X-linked disorder Focal Dermal Hypoplasia (FDH) is frequently associated with MAC and results from mutations in Porcn, a membrane bound O-acyl transferase required for palmitoylation of Wnts to activate multiple Wnt-dependent pathways. Wnt/β-catenin signaling is suppressed in the anterior neural plate for initiation of eye formation and is subsequently required during differentiation of the retinal pigment epithelium (RPE). Non-canonical Wnts are critical for early eye formation in frog and zebrafish. However, it is unclear whether this also applies to mammals. We performed ubiquitous conditional inactivation of Porcn in mouse around the eye field stage. In Porcn CKO , optic vesicles (OV) arrest in growth and fail to form an optic cup. Ventral proliferation is significantly decreased in the mutant OV, with a concomitant increase in apoptotic cell death. While pan-ocular transcription factors such as PAX6, SIX3, LHX2, and PAX2 are present, indicative of maintenance of OV identity, regional expression of VSX2, MITF, OTX2, and NR2F2 is downregulated. Failure of RPE differentiation in Porcn CKO is consistent with downregulation of the Wnt/β-catenin effector LEF1, starting around 2.5days after inactivation. This suggests that Porcn inactivation affects signaling later than a potential requirement for Wnts to promote eye field formation. Altogether, our data shows a novel requirement for Porcn in regulating growth and morphogenesis of the OV, likely by controlling proliferation and survival. In FDH patients with ocular manifestations, growth deficiency during early ocular morphogenesis may be the underlying cause for microphthalmia.

Topical treatment of skin rashes in monkeypox owing to a jelly containing Mediterranean seasosings in tragacanth and arrowroot

Basal cell carcinoma (BCC) is the most common human malignant neoplasm. It has a slowly progressive nature and a locally invasive behavior. Both genetic predisposition and exposure to environmental risks are involved in its pathogenesis. An ever-increasing annual incidence is observed. Multiple BCCs may be seen in some syndromes such as nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin–Goltz syndrome. The occurrence of multiple, concurrent, non-syndromic BCCs is rare. Herein, we present a concise report of an observation of multiple, non-syndromic BCCs involving a hypopigmented patch on the forehead in an adult Afghani patient.

Esophageal Manifestations of Dermatological Diseases, Diagnosis and Management.

The purpose of this article is to discuss the diagnosis and treatment of diseases that affect both the skin and the esophagus. The diagnosis of dermatological conditions that affect the esophagus often requires endoscopy and biopsy with some conditions requiring further investigation with serology, immunofluorescence, manometry, or genetic testing. Many conditions that affect the skin and esophagus can be treated successfully with systemic steroids and immunosuppressants including pemphigus, pemphigoid, HIV, esophageal lichen planus, and Crohn's disease. Many conditions are associated with esophageal strictures which are treated with endoscopic dilation. Furthermore, many of the diseases are pre-malignant and require vigilance and surveillance endoscopy. Diseases that affect the skin and esophagus can be grouped by their underlying etiology: autoimmune (scleroderma, dermatomyositis, pemphigus, pemphigoid), infectious (herpes simplex virus, cytomegalovirus, human immunodeficiency virus), inflammatory (lichen planus and Crohn's disease), and genetic (epidermolysis bullosa, Cowden syndrome, focal dermal hypoplasia, and tylosis). It is important to consider primary skin conditions that affect the esophagus when patients present with dysphagia of unknown etiology and characteristic skin findings.

Gorlin Goltz Syndrome- A Rare Disease Reported In Bangladesh

Gorlin-Goltz syndrome is an infrequent multisystemic disease with an autosomal dominant trait with complete penetrance and various expressivity. Gorlin Goltz Syndrome is a rare autosomal characterized by an increased predisposition to basal cell carcinoma and associated with multiorgan anomalies having a high level of penetrance. We report here a 60-year-old patient with positive findings of Gorlin-Goltz Syndrome.The following report emphasizes the identification of all the essential clinical diagnostic criteria ,radiological manifestations, and possible genetic tests to be performed for setting up an adequate treatment plan. Update Dent. Coll. j: 2022; 12(2): 32-36