Aplasia Cutis Congenita Of Limbs, Autosomal Recessive

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

BMS1, ITGB4, DLL4, PLEC, GJB6, RHOA, NOTCH1, DOCK6, ARHGAP31, COL7A1, KCTD1, EOGT, TFAP2A, NFIB, GLI3, IGF2, ITGA6, KRAS, LAMA3, HSPA9, COL17A1, COX7B, CTNNB1, TP53, LAMB3, LAMC2, MYB, TAF1, DSP, B9D1, ACACA, RBPJ, ATRX, ATP6V1B2, KIT, MYBL1, MIR483, EGFR, PRKAB1, PRKAA1, PRKAA2, ERBB2, IGF1, CDKN2A, NR5A1, IGF1R, CXCR4, ESR1, VEGFA, SOX10, ELAVL2, ZNRF3, HTC2, CCND1, BCL2A1, LOC110806263, RUNX3, ACACB, PIK3CA, MDM2, RASSF1, SLC12A7, APC, ZEB2, PGR, SST, MC2R, TERT, TWIST1, HIF1A, POMC, BRCA1, VIM, MTOR, ERCC1, MIR210, INHA, ABCB1, PECAM1, MIR195, POTEM, POTEKP, MSH2, MRC1, MIR503, MEN1, SMAD4, STMN1, PIK3CB, MIR335, SCARNA22, MIR497, MET, DKK3, PIM1, ARMC5, TYMS, VAV2, GEMIN2, BECN1, PROM1, SCAF11, PTTG1, IL6, SLC9A3R2, LONP1, FHL5, CD274, ACOT7, SMUG1, TOP2A, ACTBL2, PIK3CD, RARRES2, PIK3CG, MIR184, PPARG, PRKAR1A, MIR139, PTEN, BBC3, STK11, SKP2, SLC2A1, SMARCA2, FSCN1, SOX2, MALAT1, SERPINA3, MAPK8, ATM, ACTG1, BCL2, EZH2, FABP7, FOXM1, FOXO1, FN1, AQP1, XIAP, BUB1B, GNAS, CYP19A1, JAG1, ACTG2, ESRRA, HSP90AA1, CDK2, UBA2, HCN2, SLC40A1, NEUROG3, PDE11A, TMED7, CDH1, LEF1, SIRT6, MED27, NBAS, DDX23, DCUN1D1, DIABLO, PBK, PCYT1B, ACKR3, NDRG2, BCL9, CDKN1B, CGA, GAS5, NDRG4, PINK1, BIRC7, CORO7, OBP2A, BNIP3, GLYAT, MAT2B, ZNRD2, AKT3, DCTN6, CD44, CDA, CD36, MELK, LILRB1, SDS, CD14, HRH3, CCNB1, MMRN1, SPEN, TBC1D9, CDK1, NNT, CASP3, LIN28A, PELP1, CAD, B3GAT1, PCLAF, BRCA2, APOBEC3B, LY96, IL2, BARD1, MIR205, ALCAM, MIR214, MIR222, MIR34A, MIR17HG, AKT1, AGT, MIR431, MIR511, ADK, SNORA21, UCA1, ASIC2, SCARNA4, SNORA51, MIR675, ZGLP1, FCGR1CP, PRINS, AOS, MIR1275, MIR1202, TMED7-TICAM2, MYB-AS1, MTCO2P12, ACADVL, H3P23, MIR21, ALOX15B, EHMT1, BIRC2, PDCD1LG2, SESN2, KREMEN1, BCL10, MINDY4, MAML2, FATE1, ZNF160, MRAP2, AZIN2, TXNRD3, TWIST2, AMER1, KCTD11, SKA1, ARSA, HMSD, AQP3, GADL1, CYP26C1, TICAM2, SBSN, MIRLET7D, BIRC3, MIR150, MIR155, MIR183, CP, DGKZ, SPHK1, FOSB, MYC, NAGA, NAGLU, GHSR, NOS1, NOS2, GFAP, NUMA1, PA2G4, PCNA, GCG, GATA6, GAA, FOS, MUC1, FOLH1, FOXO3, PLAG1, PMAIP1, FGFR3, FGFR1, FCGR1B, FCGR1A, PRKACA, PRKD1, MAPK1, PSMD9, ETV6, GLP1R, COX2, CREBBP, HLA-G, IL13, IGF2R, IFNB1, ITGAV, IFI27, JUN, JUNB, JUND, ID1, KIF22, HSPD1, KRT15, HSD17B4, HGF, SFN, LHCGR, EPCAM, MARCKS, HDC, GUSB, MCAM, GSTP1, NR3C1, GRIN2B, MGMT, KMT2A, MMP9, GPX4, PTGS2, PTK7, PTPRC, CYP11B1, TCF21, DHCR24, TIMM8A, TFAP2C, TGFA, TLR4, DECR1, DDT, TSC1, DAPK1, UBC, KDM6A, CYP17A1, VEGFC, NECTIN1, CTLA4, SF1, CTBS, GHS, NR4A3, MLRL, AXIN1, AXIN2, VCAN, PPM1D, CXCL8, NCOA1, CRH, TBX1, SARDH, SULT2A1, DNAH8, RASGRF1, RPS6KB1, RRM1, RRM2, S100A1, S100B, SCN7A, SDHB, SFPQ, SGTA, EPHB2, EN1, SMARCA1, CTTN, EIF4EBP1, SOAT1, SORD, SOS1, EIF4E, SOX4, EGF, SPN, SPP1, SRC, E2F1, STAR, STAT3, H3P10

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Clinical Features

Freire-Maia et al. (1980) described congenital absence of skin in the upper or lower limbs or both in 6 members (5 males and 1 female) of 3 inbred sibships of the same kindred. The lesions usually healed spontaneously leaving a clinical appearance like that of the hypotrichotic scar of an old burn. In 6 instances, an affected father married to a relative had an affected child (pseudodominance). There was no trunk or scalp involvement.

Portnoy and Metzker (1981) described a disorder affecting a brother and sister with Yemenite parents who were presumed to be unrelated. Clinically, the disorder resembled the Bart type of epidermolysis bullosa dystrophica (132000), which is inherited as an autosomal dominant, but may, in fact, represent prenatal manifestation of epidermolysis bullosa of either the Koebner type (131900), due to a keratin defect, or epidermolysis bullosa dystrophica, due to a defect in COL7A1 (120120).