Capillary malformation: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
'''For information on vascular anomalies, [[Vascular anomalies#Vascular anomalies|click here]].''' | |||
'''For information on vascular malformations, [[Vascular malformation#Vascular malformation|click here]].''' | |||
{{Vascular malformation}} | {{Vascular malformation}} | ||
{{CMG}}; {{AE}} {{HMHJ}} | {{CMG}}; {{AE}} {{HMHJ}} | ||
==Overview== | ==Overview== | ||
Capillary malformations (CM) are simple vascular malformations. | Capillary malformations (CM) are simple [[vascular malformations]]. Clinically they can exhibit a wide range of manifestations. They may occur as isolated [[anomalies]], combined with other [[vascular anomalies]] such as [[lymphatic malformations]] and [[venous malformations]], or may occur as manifestations of multi-system [[syndromes]]. Their [[diagnosis]] and [[management]] depends on their clinical manifestations, histopathological behavior, and coexisting [[anomalies]]. | ||
==Capillary Malformations (CM)== | ==Capillary Malformations (CM)== | ||
===Nevus Simplex=== | ===Nevus Simplex=== | ||
* Also called "salmon patch" , | * Also called "[[salmon patch]]" , “[[angel kiss]]”, “[[stork bite]]”, this common anomaly presents as single or multiple [[Blanch|blanchable]], pink-red patches with poorly defined borders in newborn [[infants]]. It may affect up to 60% of new born [[infants]].<ref name="pmid20728246">{{cite journal |vauthors=Juern AM, Glick ZR, Drolet BA, Frieden IJ |title=Nevus simplex: a reconsideration of nomenclature, sites of involvement, and disease associations |journal=J. Am. Acad. Dermatol. |volume=63 |issue=5 |pages=805–14 |date=November 2010 |pmid=20728246 |doi=10.1016/j.jaad.2009.08.066 |url=}}</ref> | ||
* Typically are found at the nape of the neck , on the forehead between the [[eyebrows]] or on the [[eyelids]]. Although [[asymptomatic]], they often become more noticeable during crying or temperature changes. | * Typically are found at the nape of the neck , on the forehead between the [[eyebrows]] or on the [[eyelids]]. Although [[asymptomatic]], they often become more noticeable during crying or temperature changes. | ||
* Fades within one to two years, though some [[lesions]] can persist on the back of the neck.<ref name="pmid3562091">{{cite journal |vauthors=Cohen BA |title=Hemangiomas in infancy and childhood |journal=Pediatr Ann |volume=16 |issue=1 |pages=17–26 |date=January 1987 |pmid=3562091 |doi= |url=}}</ref> | * Fades within one to two years, though some [[lesions]] can persist on the back of the neck.<ref name="pmid3562091">{{cite journal |vauthors=Cohen BA |title=Hemangiomas in infancy and childhood |journal=Pediatr Ann |volume=16 |issue=1 |pages=17–26 |date=January 1987 |pmid=3562091 |doi= |url=}}</ref> | ||
| Line 23: | Line 28: | ||
* Usually occur as sporadic isolated [[lesions]], following the [[embryonic]] vasculature of the face. | * Usually occur as sporadic isolated [[lesions]], following the [[embryonic]] vasculature of the face. | ||
* Majority of lesions are caused by [[somatic]] [[mutations]] in GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) and its paralogue GNA 11. Somatic activating mutation in [[GNAQ]] c.548G>A, p.Arg183Gln has been demonstrated in majority of lesions. A novel GNAQ, c.547C>G, p.Arg183Gly variant has also been found to be associated with some lesions.<ref name="pmid26192947">{{cite journal |vauthors=Frigerio A, Wright K, Wooderchak-Donahue W, Tan OT, Margraf R, Stevenson DA, Grimmer JF, Bayrak-Toydemir P |title=Genetic Variants Associated with Port-Wine Stains |journal=PLoS ONE |volume=10 |issue=7 |pages=e0133158 |date=2015 |pmid=26192947 |pmc=4508108 |doi=10.1371/journal.pone.0133158 |url=}}</ref> | * Majority of lesions are caused by [[somatic]] [[mutations]] in GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) and its paralogue GNA 11. Somatic activating mutation in [[GNAQ]] c.548G>A, p.Arg183Gln has been demonstrated in majority of lesions. A novel GNAQ, c.547C>G, p.Arg183Gly variant has also been found to be associated with some lesions.<ref name="pmid26192947">{{cite journal |vauthors=Frigerio A, Wright K, Wooderchak-Donahue W, Tan OT, Margraf R, Stevenson DA, Grimmer JF, Bayrak-Toydemir P |title=Genetic Variants Associated with Port-Wine Stains |journal=PLoS ONE |volume=10 |issue=7 |pages=e0133158 |date=2015 |pmid=26192947 |pmc=4508108 |doi=10.1371/journal.pone.0133158 |url=}}</ref> | ||
* May be associated with other abnormalities including [[glaucoma]], and [[soft tissue]] and [[bone]] overgrowth and with various syndromes including [[Sturge-Weber syndrome]], Klippel-Trenaunay syndrome, Parkes-Weber syndrome, Servelle-Martorell syndrome, [[Proteus syndrome]], [[CLOVES syndrome]], [[Bannayan-Riley-Ruvalcaba syndrome]], capillary malformation-arteriovenous malformation syndrome, macrocephaly-capillary malformation syndrome, microcephaly-capillary malformation syndrome, [[Beckwith-Wiedemann syndrome]]. | * May be associated with other abnormalities including [[glaucoma]], and [[soft tissue]] and [[bone]] overgrowth and with various syndromes including [[Sturge-Weber syndrome]], [[Klippel-Trenaunay-Weber syndrome|Klippel-Trenaunay syndrome]], Parkes-Weber syndrome, Servelle-Martorell syndrome, [[Proteus syndrome]], [[CLOVES syndrome]], [[Bannayan-Riley-Ruvalcaba syndrome]], capillary malformation-arteriovenous malformation syndrome, macrocephaly-capillary malformation syndrome, microcephaly-capillary malformation syndrome, [[Beckwith-Wiedemann syndrome]]. | ||
* [[Diagnosis]] is mainly clinical depending upon history and examination. New born screening for other [[congenital]] and genetic anomalies may be indicated including urgent ophthalmology review and a brain [[MRI]].<ref name="pmid24976116">{{cite journal |vauthors=Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA |title=New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk |journal=Br. J. Dermatol. |volume=171 |issue=4 |pages=861–7 |date=October 2014 |pmid=24976116 |pmc=4284033 |doi=10.1111/bjd.13203 |url=}}</ref> | * [[Diagnosis]] is mainly clinical depending upon history and examination. New born screening for other [[congenital]] and genetic anomalies may be indicated including urgent ophthalmology review and a brain [[MRI]].<ref name="pmid24976116">{{cite journal |vauthors=Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA |title=New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk |journal=Br. J. Dermatol. |volume=171 |issue=4 |pages=861–7 |date=October 2014 |pmid=24976116 |pmc=4284033 |doi=10.1111/bjd.13203 |url=}}</ref> | ||
* The pulsed dye laser (PDL) treatment is considered to be the gold standard. [[Surgery]] is considered when port-wine stain (PWS) is associated with bone and soft tissues overgrowth.<ref name="pmid29217063">{{cite journal |vauthors=Lee JW, Chung HY |title=Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, , Laser, and Surgical Management |journal=Otolaryngol. Clin. North Am. |volume=51 |issue=1 |pages=197–211 |date=FebInvestigationsruary 2018 |pmid=29217063 |doi=10.1016/j.otc.2017.09.004 |url=}}</ref> | * The [[pulsed dye laser]] (PDL) treatment is considered to be the gold standard. [[Surgery]] is considered when [[port-wine stain]] (PWS) is associated with bone and soft tissues overgrowth.<ref name="pmid29217063">{{cite journal |vauthors=Lee JW, Chung HY |title=Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, , Laser, and Surgical Management |journal=Otolaryngol. Clin. North Am. |volume=51 |issue=1 |pages=197–211 |date=FebInvestigationsruary 2018 |pmid=29217063 |doi=10.1016/j.otc.2017.09.004 |url=}}</ref> | ||
For more information about [[port-wine stain]], [[Port-wine stain|click here]]. | |||
===Reticulate CM=== | ===Reticulate CM=== | ||
* [[Cutaneous]] [[capillary]] [[malformations]] which are reticulated, widespread on [[body]] ranging from few to hundreds of oval/circular [[macules]] or patches varying in size from few mm to several cm. These anomalies are found in two [[syndromes]]: | * [[Cutaneous]] [[capillary]] [[malformations]] which are reticulated, widespread on [[body]] ranging from few to hundreds of oval/circular [[macules]] or patches varying in size from few mm to several cm. | ||
** CM of MIC-CAP (microcephaly-capillary malformation) | * These anomalies are found in two [[syndromes]]: | ||
** CM of MIC-CAP ([[microcephaly]]-capillary malformation) | |||
** CM of MCAP (megalencephaly-capillary malformation-polymicrogyria) | ** CM of MCAP (megalencephaly-capillary malformation-polymicrogyria) | ||
===CM of CM-AVM=== | ===CM of CM-AVM=== | ||
* Usually multiple, these [[malformations]] can be round to oval, can vary from pink-red to tan,and are found in patches of 1 to 2 cm in size. These patches are scattered throughout the [[body]] and new ones may continue to appear throughout [[childhood]]. Sometimes a high flow [[murmur]] can be heard using [[Doppler]] device.<ref name="pmid18446851">{{cite journal |vauthors=Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M |title=Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations |journal=Hum. Mutat. |volume=29 |issue=7 |pages=959–65 |date=July 2008 |pmid=18446851 |doi=10.1002/humu.20746 |url=}}</ref> | * Usually multiple, these [[malformations]] can be round to oval, can vary from pink-red to tan,and are found in patches of 1 to 2 cm in size. These patches are scattered throughout the [[body]] and new ones may continue to appear throughout [[childhood]]. Sometimes a high flow [[murmur]] can be heard using [[Doppler]] device.<ref name="pmid18446851">{{cite journal |vauthors=Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M |title=Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations |journal=Hum. Mutat. |volume=29 |issue=7 |pages=959–65 |date=July 2008 |pmid=18446851 |doi=10.1002/humu.20746 |url=}}</ref> | ||
* These are found in [[ | * These are found in [[capillary]] malformation-arteriovenous malformation syndrome, an [[autosomal dominant]] [[syndrome]] associated with [[mutations]] in RASA1.<ref name="pmid20007727">{{cite journal |vauthors=Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB |title=A novel association between RASA1 mutations and spinal arteriovenous anomalies |journal=AJNR Am J Neuroradiol |volume=31 |issue=4 |pages=775–9 |date=April 2010 |pmid=20007727 |doi=10.3174/ajnr.A1907 |url=}}</ref> | ||
===Cutis marmorata telangiectatica congenita (CMTC)=== | ===Cutis marmorata telangiectatica congenita (CMTC)=== | ||
* A [[congenital]], [[vascular]] [[malformation]] consisting of [[capillary]] and [[venous]] sized [[vessels]]. Presentation is similar to physiologic [[cutis marmorata]] with a fixed reticulate [[erythema]] but unlike physiologic cutis marmorata, the [[erythema]] does not resolve with warming and may be associated with [[skin]] ulceration, [[atrophy]] of the [[skin]], and undergrowth of the involved [[extremity]]. <ref name="pmid10792796">{{cite journal |vauthors=Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A |title=Cutis marmorata telangiectatica congenita: clinical findings in 85 patients |journal=Pediatr Dermatol |volume=17 |issue=2 |pages=100–4 |date=2000 |pmid=10792796 |doi= |url=}}</ref> <ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref> | * A [[congenital]], [[vascular]] [[malformation]] consisting of [[capillary]] and [[venous]] sized [[vessels]]. Presentation is similar to physiologic [[cutis marmorata]] with a fixed reticulate [[erythema]] but unlike physiologic cutis marmorata, the [[erythema]] does not resolve with warming and may be associated with [[skin]] ulceration, [[atrophy]] of the [[skin]], and undergrowth of the involved [[extremity]].<ref name="pmid10792796">{{cite journal |vauthors=Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A |title=Cutis marmorata telangiectatica congenita: clinical findings in 85 patients |journal=Pediatr Dermatol |volume=17 |issue=2 |pages=100–4 |date=2000 |pmid=10792796 |doi= |url=}}</ref><ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref> | ||
* Findings may include prominent [[veins]], [[telangiectasias]], [[cutaneous]] [[atrophy]], ulceration, and [[hyperkeratosis]]. May have localized or generalized appearance. In localized pattern, the [[lesions]] are confined to one side of the body, not crossing midline with or without sharp [[demarcation]]. <ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref> | * Findings may include prominent [[veins]], [[telangiectasias]], [[cutaneous]] [[atrophy]], ulceration, and [[hyperkeratosis]]. May have localized or generalized appearance. In localized pattern, the [[lesions]] are confined to one side of the body, not crossing midline with or without sharp [[demarcation]].<ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref> | ||
* May be associated with a number of other abnormalities, of which [[limb]] [[asymmetry]] is the most common. Others may include [[glaucoma]], [[port wine stains]], [[angiokeratomas]], [[hemangiomas]]. It may also be associated with [[Sturge-Weber syndrome]].<ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref> Most cases tend be sporadic but autosomal recessive pattern has been observed in familial cases.<ref name="urlCutis marmorata telangiectatica congenita - MeSH - NCBI">{{cite web |url=https://www.ncbi.nlm.nih.gov/mesh/?term=C536226 |title=Cutis marmorata telangiectatica congenita - MeSH - NCBI |format= |work= |accessdate=}}</ref> | * May be associated with a number of other abnormalities, of which [[limb]] [[asymmetry]] is the most common. Others may include [[glaucoma]], [[Port-wine stain|port wine stains]], [[angiokeratomas]], [[hemangiomas]]. It may also be associated with [[Sturge-Weber syndrome]].<ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref> | ||
* Most cases tend be sporadic but [[autosomal recessive]] pattern has been observed in familial cases.<ref name="urlCutis marmorata telangiectatica congenita - MeSH - NCBI">{{cite web |url=https://www.ncbi.nlm.nih.gov/mesh/?term=C536226 |title=Cutis marmorata telangiectatica congenita - MeSH - NCBI |format= |work= |accessdate=}}</ref> | |||
* [[Diagnosis]] is clinical and depends on history and examination. Management depends on the systemic involvement. [[Skin]] [[lesions]] tend to improve [[spontaneously]].<ref name="pmid19196300">{{cite journal |vauthors=Kienast AK, Hoeger PH |title=Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria |journal=Clin. Exp. Dermatol. |volume=34 |issue=3 |pages=319–23 |date=April 2009 |pmid=19196300 |doi=10.1111/j.1365-2230.2008.03074.x |url=}}</ref><ref name="pmid10943257">{{cite journal |vauthors=Dohil MA, Baugh WP, Eichenfield LF |title=Vascular and pigmented birthmarks |journal=Pediatr. Clin. North Am. |volume=47 |issue=4 |pages=783–812, v–vi |date=August 2000 |pmid=10943257 |doi= |url=}}</ref> | * [[Diagnosis]] is clinical and depends on history and examination. Management depends on the systemic involvement. [[Skin]] [[lesions]] tend to improve [[spontaneously]].<ref name="pmid19196300">{{cite journal |vauthors=Kienast AK, Hoeger PH |title=Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria |journal=Clin. Exp. Dermatol. |volume=34 |issue=3 |pages=319–23 |date=April 2009 |pmid=19196300 |doi=10.1111/j.1365-2230.2008.03074.x |url=}}</ref><ref name="pmid10943257">{{cite journal |vauthors=Dohil MA, Baugh WP, Eichenfield LF |title=Vascular and pigmented birthmarks |journal=Pediatr. Clin. North Am. |volume=47 |issue=4 |pages=783–812, v–vi |date=August 2000 |pmid=10943257 |doi= |url=}}</ref> | ||
For more information on [[cutis marmorata telangiectatica congenita]], [[Cutis marmorata telangiectatica congenita#Cutis marmorata telangiectatica congenita|click here]]. | |||
===Telangiectasia=== | ===Telangiectasia=== | ||
* "Permanent [[dilation]] of preexisting [[blood]] [[vessels]] creating small [[focal]] red lesions, most commonly in the [[skin]] or [[mucous]] [[membranes]]. It is characterized by the prominence of skin blood [[vessels]], such as | * "Permanent [[dilation]] of preexisting [[blood]] [[vessels]] creating small [[focal]] red lesions, most commonly in the [[skin]] or [[mucous]] [[membranes]]. It is characterized by the prominence of skin blood [[vessels]], such as vascular spiders."<ref name="urlTelangiectasis - MeSH - NCBI">{{cite web |url=+++++https://www.ncbi.nlm.nih.gov/mesh/?term=D013684 |title=Telangiectasis - MeSH - NCBI |format= |work= |accessdate=}}</ref> | ||
For more information on [[hereditary hemorrhagic telangiectasia]] (HHT), [[Hereditary hemorrhagic telangiectasia#Hereditary hemorrhagic telangiectasia|click here]]. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 16:31, 19 October 2018
For information on vascular anomalies, click here.
For information on vascular malformations, click here.
|
Vascular Malformation |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2]
Overview
Capillary malformations (CM) are simple vascular malformations. Clinically they can exhibit a wide range of manifestations. They may occur as isolated anomalies, combined with other vascular anomalies such as lymphatic malformations and venous malformations, or may occur as manifestations of multi-system syndromes. Their diagnosis and management depends on their clinical manifestations, histopathological behavior, and coexisting anomalies.
Capillary Malformations (CM)
Nevus Simplex
- Also called "salmon patch" , “angel kiss”, “stork bite”, this common anomaly presents as single or multiple blanchable, pink-red patches with poorly defined borders in newborn infants. It may affect up to 60% of new born infants.[1]
- Typically are found at the nape of the neck , on the forehead between the eyebrows or on the eyelids. Although asymptomatic, they often become more noticeable during crying or temperature changes.
- Fades within one to two years, though some lesions can persist on the back of the neck.[2]
- No treatment is needed except when asked by the patient.
- Imaging studies are recommended to evaluate for underlying spinal dysraphism if lumbosacral nevus simplex is present with another lumbosacral abnormality such as dermal sinus or pit, lipoma, patch of hypertrichosis, or deviated gluteal cleft.[1]
Cutaneous and/or mucosal CM (“port-wine” stain)
- "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema." They occur on face for majority of times and may vary from pale pink to deep red or purple, ranging from few millimeters to centimeters in diameter.[3]
- Lesions are usually flat, are not painful and do not regress spontaneously.
- They may be classified as follows:
- Non-syndromic CM
- CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
- CM with bone and/or soft tissues overgrowth
- Diffuse CM with overgrowth (DCMO)
- Usually occur as sporadic isolated lesions, following the embryonic vasculature of the face.
- Majority of lesions are caused by somatic mutations in GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) and its paralogue GNA 11. Somatic activating mutation in GNAQ c.548G>A, p.Arg183Gln has been demonstrated in majority of lesions. A novel GNAQ, c.547C>G, p.Arg183Gly variant has also been found to be associated with some lesions.[4]
- May be associated with other abnormalities including glaucoma, and soft tissue and bone overgrowth and with various syndromes including Sturge-Weber syndrome, Klippel-Trenaunay syndrome, Parkes-Weber syndrome, Servelle-Martorell syndrome, Proteus syndrome, CLOVES syndrome, Bannayan-Riley-Ruvalcaba syndrome, capillary malformation-arteriovenous malformation syndrome, macrocephaly-capillary malformation syndrome, microcephaly-capillary malformation syndrome, Beckwith-Wiedemann syndrome.
- Diagnosis is mainly clinical depending upon history and examination. New born screening for other congenital and genetic anomalies may be indicated including urgent ophthalmology review and a brain MRI.[5]
- The pulsed dye laser (PDL) treatment is considered to be the gold standard. Surgery is considered when port-wine stain (PWS) is associated with bone and soft tissues overgrowth.[6]
For more information about port-wine stain, click here.
Reticulate CM
- Cutaneous capillary malformations which are reticulated, widespread on body ranging from few to hundreds of oval/circular macules or patches varying in size from few mm to several cm.
- These anomalies are found in two syndromes:
- CM of MIC-CAP (microcephaly-capillary malformation)
- CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)
CM of CM-AVM
- Usually multiple, these malformations can be round to oval, can vary from pink-red to tan,and are found in patches of 1 to 2 cm in size. These patches are scattered throughout the body and new ones may continue to appear throughout childhood. Sometimes a high flow murmur can be heard using Doppler device.[7]
- These are found in capillary malformation-arteriovenous malformation syndrome, an autosomal dominant syndrome associated with mutations in RASA1.[8]
Cutis marmorata telangiectatica congenita (CMTC)
- A congenital, vascular malformation consisting of capillary and venous sized vessels. Presentation is similar to physiologic cutis marmorata with a fixed reticulate erythema but unlike physiologic cutis marmorata, the erythema does not resolve with warming and may be associated with skin ulceration, atrophy of the skin, and undergrowth of the involved extremity.[9][10]
- Findings may include prominent veins, telangiectasias, cutaneous atrophy, ulceration, and hyperkeratosis. May have localized or generalized appearance. In localized pattern, the lesions are confined to one side of the body, not crossing midline with or without sharp demarcation.[11]
- May be associated with a number of other abnormalities, of which limb asymmetry is the most common. Others may include glaucoma, port wine stains, angiokeratomas, hemangiomas. It may also be associated with Sturge-Weber syndrome.[12]
- Most cases tend be sporadic but autosomal recessive pattern has been observed in familial cases.[13]
- Diagnosis is clinical and depends on history and examination. Management depends on the systemic involvement. Skin lesions tend to improve spontaneously.[14][15]
For more information on cutis marmorata telangiectatica congenita, click here.
Telangiectasia
- "Permanent dilation of preexisting blood vessels creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders."[16]
For more information on hereditary hemorrhagic telangiectasia (HHT), click here.
References
- ↑ 1.0 1.1 Juern AM, Glick ZR, Drolet BA, Frieden IJ (November 2010). "Nevus simplex: a reconsideration of nomenclature, sites of involvement, and disease associations". J. Am. Acad. Dermatol. 63 (5): 805–14. doi:10.1016/j.jaad.2009.08.066. PMID 20728246.
- ↑ Cohen BA (January 1987). "Hemangiomas in infancy and childhood". Pediatr Ann. 16 (1): 17–26. PMID 3562091.
- ↑ "Port-Wine Stain - MeSH - NCBI".
- ↑ Frigerio A, Wright K, Wooderchak-Donahue W, Tan OT, Margraf R, Stevenson DA, Grimmer JF, Bayrak-Toydemir P (2015). "Genetic Variants Associated with Port-Wine Stains". PLoS ONE. 10 (7): e0133158. doi:10.1371/journal.pone.0133158. PMC 4508108. PMID 26192947.
- ↑ Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA (October 2014). "New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk". Br. J. Dermatol. 171 (4): 861–7. doi:10.1111/bjd.13203. PMC 4284033. PMID 24976116.
- ↑ Lee JW, Chung HY (FebInvestigationsruary 2018). "Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, , Laser, and Surgical Management". Otolaryngol. Clin. North Am. 51 (1): 197–211. doi:10.1016/j.otc.2017.09.004. PMID 29217063. Check date values in:
|date=(help) - ↑ Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M (July 2008). "Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations". Hum. Mutat. 29 (7): 959–65. doi:10.1002/humu.20746. PMID 18446851.
- ↑ Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB (April 2010). "A novel association between RASA1 mutations and spinal arteriovenous anomalies". AJNR Am J Neuroradiol. 31 (4): 775–9. doi:10.3174/ajnr.A1907. PMID 20007727.
- ↑ Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A (2000). "Cutis marmorata telangiectatica congenita: clinical findings in 85 patients". Pediatr Dermatol. 17 (2): 100–4. PMID 10792796.
- ↑ Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042
- ↑ Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042
- ↑ Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042
- ↑ "Cutis marmorata telangiectatica congenita - MeSH - NCBI".
- ↑ Kienast AK, Hoeger PH (April 2009). "Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria". Clin. Exp. Dermatol. 34 (3): 319–23. doi:10.1111/j.1365-2230.2008.03074.x. PMID 19196300.
- ↑ Dohil MA, Baugh WP, Eichenfield LF (August 2000). "Vascular and pigmented birthmarks". Pediatr. Clin. North Am. 47 (4): 783–812, v–vi. PMID 10943257.
- ↑ [+++++https://www.ncbi.nlm.nih.gov/mesh/?term=D013684 "Telangiectasis - MeSH - NCBI"] Check
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