Developmental potency of primitive and embryonic ectoderm cells from 4.50-day to 6.25-day post-coitum (p.c.) mouse embryos and primordial germ cells from 12.50-day p.c.male genital ridges of fetal mice were studied by...Developmental potency of primitive and embryonic ectoderm cells from 4.50-day to 6.25-day post-coitum (p.c.) mouse embryos and primordial germ cells from 12.50-day p.c.male genital ridges of fetal mice were studied by direct introducing them into 3.50-day p.c.blastocysts.Sixteen (61.5) overt chimaeras out of 26(50%) offsprings were obtained after transfer of 52 blastocysts injected with 4.50-day primitive ectoderm cells;four (16.0%) overt chimaeras were obtained out of 25 (51.0%) offsprings with 4.75-day primitive ectoderm cells from 49 transferred blastocysts.However,no overt chimaera was obtained with either 5.25-day or 6.25-day embryonic ectoderm cells or 12.50-day male primordial germ cells.GPI analysis of mid-gestation conceptuses developed from injected blastocysts showedthat 5.25-day embryonic ectoderm cells could only contributed to yolk sac of conceptus.Results suggested that implantation acts as a trigger for the determination of primitive ectoderm cells,and their developmental potency becomes limited within a short period of time in normal development.展开更多
●AIM:To investigate how signals from lens regulate retinal vascular development and neovascularization.●METHODS:Le-Cre transgenic mouse line was employed to inactivate Smad4 in the surface ectoderm selectively.Stand...●AIM:To investigate how signals from lens regulate retinal vascular development and neovascularization.●METHODS:Le-Cre transgenic mouse line was employed to inactivate Smad4 in the surface ectoderm selectively.Standard histological and whole-mount retina staining were employed to reveal morphological changes of retinal vasculature in Smad4 defective eye.cDNA microarray and subsequent analyses were conducted to investigate the molecular mechanism underlying the vascular phenotype.Quantitative polymerase chain reaction(qPCR)was carried out to verify the microarrays results.●RESULTS:We found that inactivation of Smad4 specifically on surface ectoderm leads to a variety of retinal vasculature anomalies.Microarray analyses and qPCR revealed that Sema3 c,Sema3 e,Nrp1,Tie1,Sox7,Sox17,and Sox18 are significantly affected in the knockout retinas at different developmental stages,suggesting that ocular surface ectoderm-derived Smad4 can signal to the retina and regulates various angiogenic signaling in the retina.●CONCLUSION:Our data suggest that the cross-talk between ocular surface ectoderm and retina is important for retinal vasculature development,and Smad4 regulates various signaling associated with sprouting angiogenesis,vascular remodeling and maturation in the retina of mice.展开更多
Timing of vegetal-endodermal cell determination in amphioxus embryos remains uncertain. We tentatively testal effects of A23187, the calcium ionophore, on the deveopment of vegetal blastomeres isolated at the 16-cell ...Timing of vegetal-endodermal cell determination in amphioxus embryos remains uncertain. We tentatively testal effects of A23187, the calcium ionophore, on the deveopment of vegetal blastomeres isolated at the 16-cell stage. It was found that when vegetal blastomres committed to endodermwere treated with A23187 prior to gastrulation, they were transformed into ectodermal cells as evidenced by the cell morphology and function characteristic of epidermis. Howver, the developmental fate of the sam blastomeres untreated or treated with DMSO at the same stage or of those treated with A23187 after gastrulation remained unchanged. Thus, vegetal-endodermal cells in amphioxus embryos are not irreversibly deermined before the gastrula stage, and artificial incarease in intracelluar Ca2+ concentration can induce transdetermination of the predetermined endodermal cells into ectodermal cells.展开更多
Understanding limb development not only gives insights into the outgrowth and differentiation of the limb,but also has clinical relevance.Limb development begins with two paired limb buds(forelimb and hindlimb buds),w...Understanding limb development not only gives insights into the outgrowth and differentiation of the limb,but also has clinical relevance.Limb development begins with two paired limb buds(forelimb and hindlimb buds),which are initially undifferentiated mesenchymal cells tipped with a thickening of the ectoderm,termed the apical ectodermal ridge(AER).As a transitional embryonic structure,the AER undergoes four stages and contributes to multiple axes of limb development through the coordination of signalling centres,feedback loops,and other cell ac-tivities by secretory signalling and the activation of gene expression.Within the scope of proximodistal pattering,it is understood that while fibroblast growth factors(FGFs)function sequentially over time as primary components of the AER signalling process,there is still no consensus on models that would explain proximodistal patterning itself.In anteroposterior pattermning,the AER has a dual-direction regulation by which it promotes the sonic hedgehog(Shh)gene expression in the zone of polarizing activity(ZPA)for proliferation,and inhibits Shh expression in the anterior mesenchyme.In dorsoventral patterming,the AER activates Engrailed-1(En1)expression,and thus represses Wnt family member 7a(Wnt7a)expression in the ventral ectoderm by the expression of Fgfs,Sp6/8,and bone morpho-genetic protein(Bmp)genes.The AER also plays a vital role in shaping the individual digits,since levels of Fgf4/8 and Bmps expressed in the AER affect digit patterning by controlling apoptosis.In summary,the knowledge of crosstalk within AER among the three main axes is essential to understand limb growth and pattern fomation,as the development of its areas proceeds simultaneously.展开更多
AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing wit...AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members.RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations.CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.展开更多
BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varyin...BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varying degrees.Although the same variation locus have been reported,the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder,palmoplantar keratosis,and congenital hypotrichosis.CASE SUMMARY This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED.The proband(IV4)was a male patient with normal sweat gland function and dental development,no skeletal dysplasia,no cognitive disability,and no hearing impairments.His parents were not consanguineously married.Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longit-udinal ridges,in addition to mild bilateral palmoplantar hyperkeratosis.GJB6,GJB2,and GJA1 have been reported to be the causative genes of HED;therefore,we subjected the patient’s samples to Sanger sequencing of these three genes.In this family,the variation locus was at GJB6(c.31G>A,p.Gly11Arg).Overex-pression vectors of wild-type GJB6 and its variants were established and transfected into HaCaT cell models,and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot,respectively.CONCLUSION We report another HED phenotype associated with GJB6 variations,which can help clinicians to diagnose HED despite its varying presentations.展开更多
The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject's life is considerably constrained and this from an early age, with major difficulties for the integration a...The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject's life is considerably constrained and this from an early age, with major difficulties for the integration and acceptance of conventional prosthetic occlusal rehabilitation. The use of implants is an integral part of early treatment, in the regions of stable growth, that is to say symphysis. In two childs of 5 and 6 years we have made implant-borne prosthetic rehabilitation in the maxilla and the mandible. Aesthetic and social evaluation were positive. We have restored the normal oro-facial functions for the correct development of skeletal bases. They acted as an external fixator intraoral, stimulating the growth by the function. Our question was: can we leave a child throughout his childhood and adolescence with a not suitable removable prosthesis, under the pretext of growth unfinished?展开更多
Ectodermal dysplasia is a rare disease with involvement of teeth,skin and appendages. We report a 2 year old boy presenting with recurrent fever,scarce facial and scalp hair and absence of sweating. Skin and hair biop...Ectodermal dysplasia is a rare disease with involvement of teeth,skin and appendages. We report a 2 year old boy presenting with recurrent fever,scarce facial and scalp hair and absence of sweating. Skin and hair biopsies were suggestive of hypohidrotic ectodermal dysplasia.展开更多
Mutations of integrin-interacting protein Kindlin-1 cause Kindler syndrome and deregulation of Kindlin-1 is implicated in human cancers. The Kindlin-1-related diseases are confined in limited tissue types. However, Ki...Mutations of integrin-interacting protein Kindlin-1 cause Kindler syndrome and deregulation of Kindlin-1 is implicated in human cancers. The Kindlin-1-related diseases are confined in limited tissue types. However, Kindlin-1 tissue distribution and the dogma that governs Kindlin-1 expression in normal human body are elusive. This study examined Kindlin-1 expression in normal human adult organs, human and mouse embryonic organs by immunohistochemical analyses. We identified a general principle that the level of Kindlin-1 expression in tissues is tightly correlated with the corresponding germ layers from which these tissues originate. We compared the expression of Kindlin-1 with Kindlin-2 and found that Kindlin-1 is highly expressed in epithelial tissues derived from ectoderm and endoderm, whereas Kindlin-2 is mainly expressed in mesoderm-derived tissues. Likewise, Kindlin-1 was also found highly expressed in endoderm/ectoderm-derived tissues in human and mouse embryos. Our findings indicate that Kindlin-1 may play an importance role in the development of endoderm/ectoderm related tissues.展开更多
Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and in...Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.展开更多
The ectoderm has the capability to generate epidermis and neuroectoderm and plays imperative roles during the early embryonic development.Our recent study uncovered a region with ectodermal progenitor potential in mou...The ectoderm has the capability to generate epidermis and neuroectoderm and plays imperative roles during the early embryonic development.Our recent study uncovered a region with ectodermal progenitor potential in mouse embryo at embryonic day 7.0 and revealed that Nodal inhibition is essential for its formation.Here,we demonstrate that through brief inhibition of Nodal signaling in vitro,mouse embryonic stem cell(ESC)-derived epiblast stem cells(ESD-EpiSCs)could be committed to transient ectodermal progenitor populations,which possess the ability to give rise to neural or epidermal ectoderm in the absence or presence of BMP4,respectively.Mechanistic studies reveal that BMP4 recruits distinct transcriptional targets in ESD-EpiSCs and ectoderm-like cells.Furthermore,FGF–Erk signaling may also be alleviated during the generation of ectoderm-like cells.Thus,our data suggest that instructive interactions among several extracellular signals participate in the commitment of ectoderm from ESD-EpiSCs,which shed new light on the understanding of the formation of ectoderm during the gastrulation in early mouse embryo development.展开更多
Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression an...Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression and penetrance.The management of this syndrome is challenging,with few reports in the medical literature.We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.展开更多
文摘Developmental potency of primitive and embryonic ectoderm cells from 4.50-day to 6.25-day post-coitum (p.c.) mouse embryos and primordial germ cells from 12.50-day p.c.male genital ridges of fetal mice were studied by direct introducing them into 3.50-day p.c.blastocysts.Sixteen (61.5) overt chimaeras out of 26(50%) offsprings were obtained after transfer of 52 blastocysts injected with 4.50-day primitive ectoderm cells;four (16.0%) overt chimaeras were obtained out of 25 (51.0%) offsprings with 4.75-day primitive ectoderm cells from 49 transferred blastocysts.However,no overt chimaera was obtained with either 5.25-day or 6.25-day embryonic ectoderm cells or 12.50-day male primordial germ cells.GPI analysis of mid-gestation conceptuses developed from injected blastocysts showedthat 5.25-day embryonic ectoderm cells could only contributed to yolk sac of conceptus.Results suggested that implantation acts as a trigger for the determination of primitive ectoderm cells,and their developmental potency becomes limited within a short period of time in normal development.
基金Supported by Tianjin Natural Science Funds(No.18JCQNJC10600).
文摘●AIM:To investigate how signals from lens regulate retinal vascular development and neovascularization.●METHODS:Le-Cre transgenic mouse line was employed to inactivate Smad4 in the surface ectoderm selectively.Standard histological and whole-mount retina staining were employed to reveal morphological changes of retinal vasculature in Smad4 defective eye.cDNA microarray and subsequent analyses were conducted to investigate the molecular mechanism underlying the vascular phenotype.Quantitative polymerase chain reaction(qPCR)was carried out to verify the microarrays results.●RESULTS:We found that inactivation of Smad4 specifically on surface ectoderm leads to a variety of retinal vasculature anomalies.Microarray analyses and qPCR revealed that Sema3 c,Sema3 e,Nrp1,Tie1,Sox7,Sox17,and Sox18 are significantly affected in the knockout retinas at different developmental stages,suggesting that ocular surface ectoderm-derived Smad4 can signal to the retina and regulates various angiogenic signaling in the retina.●CONCLUSION:Our data suggest that the cross-talk between ocular surface ectoderm and retina is important for retinal vasculature development,and Smad4 regulates various signaling associated with sprouting angiogenesis,vascular remodeling and maturation in the retina of mice.
文摘Timing of vegetal-endodermal cell determination in amphioxus embryos remains uncertain. We tentatively testal effects of A23187, the calcium ionophore, on the deveopment of vegetal blastomeres isolated at the 16-cell stage. It was found that when vegetal blastomres committed to endodermwere treated with A23187 prior to gastrulation, they were transformed into ectodermal cells as evidenced by the cell morphology and function characteristic of epidermis. Howver, the developmental fate of the sam blastomeres untreated or treated with DMSO at the same stage or of those treated with A23187 after gastrulation remained unchanged. Thus, vegetal-endodermal cells in amphioxus embryos are not irreversibly deermined before the gastrula stage, and artificial incarease in intracelluar Ca2+ concentration can induce transdetermination of the predetermined endodermal cells into ectodermal cells.
基金Key Research and Development Project of Shandong Province(No.2017G006043),China。
文摘Understanding limb development not only gives insights into the outgrowth and differentiation of the limb,but also has clinical relevance.Limb development begins with two paired limb buds(forelimb and hindlimb buds),which are initially undifferentiated mesenchymal cells tipped with a thickening of the ectoderm,termed the apical ectodermal ridge(AER).As a transitional embryonic structure,the AER undergoes four stages and contributes to multiple axes of limb development through the coordination of signalling centres,feedback loops,and other cell ac-tivities by secretory signalling and the activation of gene expression.Within the scope of proximodistal pattering,it is understood that while fibroblast growth factors(FGFs)function sequentially over time as primary components of the AER signalling process,there is still no consensus on models that would explain proximodistal patterning itself.In anteroposterior pattermning,the AER has a dual-direction regulation by which it promotes the sonic hedgehog(Shh)gene expression in the zone of polarizing activity(ZPA)for proliferation,and inhibits Shh expression in the anterior mesenchyme.In dorsoventral patterming,the AER activates Engrailed-1(En1)expression,and thus represses Wnt family member 7a(Wnt7a)expression in the ventral ectoderm by the expression of Fgfs,Sp6/8,and bone morpho-genetic protein(Bmp)genes.The AER also plays a vital role in shaping the individual digits,since levels of Fgf4/8 and Bmps expressed in the AER affect digit patterning by controlling apoptosis.In summary,the knowledge of crosstalk within AER among the three main axes is essential to understand limb growth and pattern fomation,as the development of its areas proceeds simultaneously.
基金Supported by Zhejiang Provincial Natural Science Foundation of China (No.LY19H120005)。
文摘AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members.RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations.CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.
文摘BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varying degrees.Although the same variation locus have been reported,the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder,palmoplantar keratosis,and congenital hypotrichosis.CASE SUMMARY This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED.The proband(IV4)was a male patient with normal sweat gland function and dental development,no skeletal dysplasia,no cognitive disability,and no hearing impairments.His parents were not consanguineously married.Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longit-udinal ridges,in addition to mild bilateral palmoplantar hyperkeratosis.GJB6,GJB2,and GJA1 have been reported to be the causative genes of HED;therefore,we subjected the patient’s samples to Sanger sequencing of these three genes.In this family,the variation locus was at GJB6(c.31G>A,p.Gly11Arg).Overex-pression vectors of wild-type GJB6 and its variants were established and transfected into HaCaT cell models,and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot,respectively.CONCLUSION We report another HED phenotype associated with GJB6 variations,which can help clinicians to diagnose HED despite its varying presentations.
文摘The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject's life is considerably constrained and this from an early age, with major difficulties for the integration and acceptance of conventional prosthetic occlusal rehabilitation. The use of implants is an integral part of early treatment, in the regions of stable growth, that is to say symphysis. In two childs of 5 and 6 years we have made implant-borne prosthetic rehabilitation in the maxilla and the mandible. Aesthetic and social evaluation were positive. We have restored the normal oro-facial functions for the correct development of skeletal bases. They acted as an external fixator intraoral, stimulating the growth by the function. Our question was: can we leave a child throughout his childhood and adolescence with a not suitable removable prosthesis, under the pretext of growth unfinished?
文摘Ectodermal dysplasia is a rare disease with involvement of teeth,skin and appendages. We report a 2 year old boy presenting with recurrent fever,scarce facial and scalp hair and absence of sweating. Skin and hair biopsies were suggestive of hypohidrotic ectodermal dysplasia.
基金supported by the National Natural Science Foundation of China(81301802,81230051,30830048,31170711)Grant of Ministry of Science and Technology of China(2013CB910501,2010CB912203,2010CB529402)+3 种基金Program for Introducing Talents of Discipline to Universities(111 Project)of Ministry of EducationBeijing Natural Science Foundation(7120002)Peking University grants(BMU20120314,BMU20130364,BMU20130373)a Leading Academic Discipline Project of Beijing Education Bureau
文摘Mutations of integrin-interacting protein Kindlin-1 cause Kindler syndrome and deregulation of Kindlin-1 is implicated in human cancers. The Kindlin-1-related diseases are confined in limited tissue types. However, Kindlin-1 tissue distribution and the dogma that governs Kindlin-1 expression in normal human body are elusive. This study examined Kindlin-1 expression in normal human adult organs, human and mouse embryonic organs by immunohistochemical analyses. We identified a general principle that the level of Kindlin-1 expression in tissues is tightly correlated with the corresponding germ layers from which these tissues originate. We compared the expression of Kindlin-1 with Kindlin-2 and found that Kindlin-1 is highly expressed in epithelial tissues derived from ectoderm and endoderm, whereas Kindlin-2 is mainly expressed in mesoderm-derived tissues. Likewise, Kindlin-1 was also found highly expressed in endoderm/ectoderm-derived tissues in human and mouse embryos. Our findings indicate that Kindlin-1 may play an importance role in the development of endoderm/ectoderm related tissues.
文摘Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.
基金Thisworkwas supported in part by the Strategic Priority Research Program of the Chinese Academy of Sciences(XDA01010201)the National Key Basic Research and Development Program of China(2014CB964804,2015CB964500)the National Natural Science Foundation of China(91219303,31430058).
文摘The ectoderm has the capability to generate epidermis and neuroectoderm and plays imperative roles during the early embryonic development.Our recent study uncovered a region with ectodermal progenitor potential in mouse embryo at embryonic day 7.0 and revealed that Nodal inhibition is essential for its formation.Here,we demonstrate that through brief inhibition of Nodal signaling in vitro,mouse embryonic stem cell(ESC)-derived epiblast stem cells(ESD-EpiSCs)could be committed to transient ectodermal progenitor populations,which possess the ability to give rise to neural or epidermal ectoderm in the absence or presence of BMP4,respectively.Mechanistic studies reveal that BMP4 recruits distinct transcriptional targets in ESD-EpiSCs and ectoderm-like cells.Furthermore,FGF–Erk signaling may also be alleviated during the generation of ectoderm-like cells.Thus,our data suggest that instructive interactions among several extracellular signals participate in the commitment of ectoderm from ESD-EpiSCs,which shed new light on the understanding of the formation of ectoderm during the gastrulation in early mouse embryo development.
文摘Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression and penetrance.The management of this syndrome is challenging,with few reports in the medical literature.We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.
